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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
17-beta hydroxysteroid dehydrogenase 3 deficiency +   
2-aminoadipic 2-oxoadipic aciduria  
3-hydroxy-3-methylglutaryl-CoA lyase deficiency  
3-hydroxyisobutryl-CoA hydrolase deficiency  
3-M syndrome +   
3-methylcrotonyl-CoA carboxylase deficiency +   
3-methylglutaconic aciduria type 1  
3-methylglutaconic aciduria type 3  
3-methylglutaconic aciduria type 5  
3-methylglutaconic aciduria type 8  
3-methylglutaconic aciduria type 9  
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +   
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
3MC syndrome +   
3MC syndrome 3  
46,XY sex reversal 5  
46,XY sex reversal 7  
46,XY sex reversal 8  
Aarskog syndrome +   
ABCD syndrome  
abetalipoproteinemia +   
Absent Eyebrows and Eyelashes with Mental Retardation 
Abuse Dwarfism Syndrome 
aceruloplasminemia  
achalasia microcephaly syndrome 
acheiropody  
achondrogenesis type IA  
achondrogenesis type IB  
achondroplasia +   
achromatopsia 2  
achromatopsia 3  
achromatopsia 7  
acrocallosal syndrome +   
acrocapitofemoral dysplasia  
acrodysostosis +   
acromesomelic dysplasia +   
acromesomelic dysplasia, Grebe type  
acromesomelic dysplasia, Hunter-Thompson type  
acromesomelic dysplasia, Maroteaux type  
acromesomelic dysplasia-4  
acrorenal syndrome +  
adenine phosphoribosyltransferase deficiency  
adult spinal muscular atrophy  
agammaglobulinemia 1  
agammaglobulinemia 2  
agammaglobulinemia 3  
agammaglobulinemia 4  
agammaglobulinemia 6  
agammaglobulinemia 7  
agammaglobulinemia 8B  
agammaglobulinemia 9  
AGAT deficiency  
agenesis of the corpus callosum with peripheral neuropathy  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Akesson Syndrome 
Al Gazali Aziz Salem Syndrome 
Al Gazali Sabrinathan Nair Syndrome 
Al-Raqad Syndrome  
alacrima, achalasia, and impaired intellectual development syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alkuraya-Kucinskas syndrome  
Alopecia Contractures Dwarfism Mental Retardation 
alopecia universalis +   
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
alopecia, neurologic defects, and endocrinopathy syndrome  
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 
alopecia-mental retardation syndrome +   
alopecia-mental retardation syndrome 1  
alopecia-mental retardation syndrome 2 
alopecia-mental retardation syndrome 3 
alopecia-mental retardation syndrome 4  
Alpers-Huttenlocher syndrome +   
alpha thalassemia-intellectual disability syndrome type 1 
alpha-2-plasmin inhibitor deficiency  
alpha-thalassemia myelodysplasia syndrome  
Alstrom syndrome  
AMED syndrome  
A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance. (DO)
amelogenesis imperfecta hypomaturation type 2A2  
amelogenesis imperfecta hypomaturation type 2A3  
amelogenesis imperfecta hypomaturation type 2A4  
amelogenesis imperfecta hypomaturation type 2A5  
amelogenesis imperfecta type 1C  
amelogenesis imperfecta type 1F  
amelogenesis imperfecta type 1G  
amelogenesis imperfecta type 1H  
amelogenesis imperfecta type 1J  
amelogenesis imperfecta type 2A1  
amelogenesis imperfecta type 2A6  
amelogenesis imperfecta type 3C  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
AMME complex 
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 
Amyotrophic Dystonic Paraplegia 
amyotrophic lateral sclerosis type 1  
anauxetic dysplasia +   
anauxetic dysplasia 1  
anauxetic dysplasia 2  
anauxetic dysplasia 3  
Ansell Bywaters Elderking Syndrome 
anterior segment dysgenesis 2 +   
anterior segment dysgenesis 7  
anterior segment dysgenesis 8  
antithrombin III deficiency  
Antley-Bixler syndrome with disordered steroidogenesis  
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation 
Arboleda-Tham syndrome  
ARC syndrome +   
arthrogryposis multiplex congenita +   
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Arthrogryposis, Impaired Intellectual Development, and Seizures  
asphyxiating thoracic dystrophy 1  
asphyxiating thoracic dystrophy 2  
asphyxiating thoracic dystrophy 3  
asphyxiating thoracic dystrophy 4  
asphyxiating thoracic dystrophy 5  
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
Atelosteogenesis Type 3  
Athabaskan brainstem dysgenesis syndrome  
atransferrinemia  
atrial standstill 2  
atrichia with papular lesions  
Au-Kline Syndrome  
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
autoimmune lymphoproliferative syndrome type 2B  
autoimmune lymphoproliferative syndrome type 3  
autosomal dominant intellectual developmental disorder +   
autosomal recessive Alport syndrome  
autosomal recessive centronuclear myopathy +   
autosomal recessive cerebellar ataxia +   
autosomal recessive chronic granulomatous disease 1  
autosomal recessive chronic granulomatous disease 2  
autosomal recessive chronic granulomatous disease 3  
autosomal recessive chronic granulomatous disease 4  
autosomal recessive chronic granulomatous disease 5  
autosomal recessive congenital bilateral absence of vas deferens  
autosomal recessive congenital ichthyosis +   
autosomal recessive congenital nystagmus  
autosomal recessive craniometaphyseal dysplasia  
Autosomal Recessive Cutis Laxa +   
autosomal recessive cutis laxa type III +   
autosomal recessive distal hereditary motor neuronopathy +   
Autosomal Recessive Dyskeratosis Congenita +   
autosomal recessive Emery-Dreifuss muscular dystrophy 3  
autosomal recessive hyaline body myopathy  
autosomal recessive hypophosphatemic rickets +   
autosomal recessive intellectual developmental disorder +   
autosomal recessive isolated ectopia lentis 2  
autosomal recessive limb-girdle muscular dystrophy +   
autosomal recessive limb-girdle muscular dystrophy type 2P  
autosomal recessive nonsyndromic deafness +   
autosomal recessive nonsyndromic deafness 1A  
autosomal recessive osteopetrosis 1  
autosomal recessive osteopetrosis 2  
autosomal recessive osteopetrosis 3  
autosomal recessive osteopetrosis 4  
autosomal recessive osteopetrosis 5  
autosomal recessive osteopetrosis 6  
autosomal recessive osteopetrosis 7  
autosomal recessive osteopetrosis 8  
autosomal recessive pericentral pigmentary retinopathy 
Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development  
autosomal recessive polycystic kidney disease +   
autosomal recessive pseudohypoaldosteronism type 1 +   
autosomal recessive pyridoxine-refractory sideroblastic anemia 2  
autosomal recessive pyridoxine-refractory sideroblastic anemia 3  
autosomal recessive Robinow syndrome  
autosomal recessive Robinow syndrome 2  
autosomal recessive spinocerebellar ataxia 12  
autosomal recessive spondyloepiphyseal dysplasia tarda  
autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type 
autosomal recessive thrombophilia due to protein C deficiency  
autosomal recessive thrombophilia due to protein S deficiency  
autosomal recessive type IV Ehlers-Danlos syndrome 
autosomal recessive Whistling face syndrome 
Autosomal Recessive Woolly Hair +   
autosomal-mitochondrial sensorineural deafness  
axial spondylometaphyseal dysplasia  
Ayme-Gripp syndrome  
Bagatelle Cassidy Syndrome 
Bainbridge-Ropers syndrome  
Bangstad Syndrome 
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Bardet-Biedl syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
BDV Syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beck-Fahrner Syndrome  
Becker disease  
Behr syndrome  
Bellini Chiumello Rimoldi Syndrome 
benign recurrent intrahepatic cholestasis 1  
benign recurrent intrahepatic cholestasis 2  
bent bone dysplasia syndrome 2  
Bernard-Soulier syndrome +   
beta-ketothiolase deficiency  
BH4-deficient hyperphenylalaninemia A  
BH4-deficient hyperphenylalaninemia B  
BH4-deficient hyperphenylalaninemia C  
BH4-deficient hyperphenylalaninemia D  
Biemond Syndrome II 
bilateral frontoparietal polymicrogyria  
bilateral parasagittal parieto-occipital polymicrogyria  
bilateral perisylvian polymicrogyria +   
biotinidase deficiency +   
Bird Headed Dwarfism Montreal Type 
Birk-Barel syndrome  
Bjornstad syndrome  
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
blepharophimosis-impaired intellectual development syndrome  
Bloom syndrome  
Bohring Syndrome  
Bone Marrow Failure Syndrome 1  
Boomerang dysplasia  
Bosch-Boonstra-Schaaf optic atrophy syndrome  
Boucher-Neuhauser syndrome  
Boudhina Yedes Khiari syndrome 
Bowen-Conradi syndrome  
brachycephaly, trichomegaly, and developmental delay  
Brachydactylous Dwarfism Mseleni Type 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
brachyolmia-amelogenesis imperfecta syndrome  
bradyopsia +   
brain small vessel disease 3  
branched-chain keto acid dehydrogenase kinase deficiency  
Bresheck/Bresek Syndrome 
brittle cornea syndrome 1  
brittle cornea syndrome 2  
Brown-Vialetto-Van Laere syndrome 1  
Brown-Vialetto-Van Laere syndrome 2  
Brunner syndrome  
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
BURATTI-HAREL SYNDROME  
C syndrome  
CAHMR Syndrome 
Camera Marugo Cohen Syndrome 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Canavan disease  
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
carbamoyl phosphate synthetase I deficiency disease  
carboxypeptidase N deficiency  
carnitine-acylcarnitine translocase deficiency  
Caroli syndrome  
cartilage-hair hypoplasia  
Cartwright Nelson Fryns Syndrome 
cataract 11 multiple types +   
cataract 13 with adult i phenotype  
cataract 16 multiple types  
cataract 17 multiple types  
cataract 18  
cataract 19 multiple types  
cataract 22 multiple types  
cataract 33  
cataract 35 
cataract 36  
cataract 38  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
cataract 48  
cataract 9 multiple types  
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATIFA Syndrome  
CD3epsilon deficiency  
CD3gamma deficiency 
CEDNIK syndrome  
Cephalin Lipidosis 
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome +   
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
cerebellar atrophy, visual impairment, and psychomotor retardation  
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM  
cerebellar hypoplasia +   
cerebellofaciodental syndrome  
cerebral cavernous malformation 2  
cerebral cavernous malformation 3  
cerebral folate receptor alpha deficiency  
Cerebral Visual Impairment and Intellectual Disability  
cerebrocostomandibular syndrome  
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
Cerebrooculonasal Syndrome 
Charcot-Marie-Tooth disease axonal type 2H 
Charcot-Marie-Tooth disease axonal type 2K  
Charcot-Marie-Tooth disease axonal type 2P  
Charcot-Marie-Tooth disease axonal type 2S  
Charcot-Marie-Tooth disease axonal type 2T  
Charcot-Marie-Tooth disease axonal type 2X  
Charcot-Marie-Tooth disease recessive intermediate A  
Charcot-Marie-Tooth disease recessive intermediate B  
Charcot-Marie-Tooth disease recessive intermediate C  
Charcot-Marie-Tooth disease recessive intermediate D  
Charcot-Marie-Tooth disease type 1F  
Charcot-Marie-Tooth disease type 2A2B  
Charcot-Marie-Tooth disease type 2B1  
Charcot-Marie-Tooth disease type 2B2  
Charcot-Marie-Tooth disease type 2EE  
Charcot-Marie-Tooth disease type 2R  
Charcot-Marie-Tooth disease type 3  
Charcot-Marie-Tooth disease type 4A  
Charcot-Marie-Tooth disease type 4B1  
Charcot-Marie-Tooth disease type 4B2  
Charcot-Marie-Tooth disease type 4B3  
Charcot-Marie-Tooth disease type 4C  
Charcot-Marie-Tooth disease type 4D  
Charcot-Marie-Tooth disease type 4E  
Charcot-Marie-Tooth disease type 4F  
Charcot-Marie-Tooth disease type 4G  
Charcot-Marie-Tooth disease type 4H  
Charcot-Marie-Tooth disease type 4J  
Charcot-Marie-Tooth disease type 4K  
Chediak-Higashi syndrome +   
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities  
CHIME syndrome  
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia Calcificans Metaphysealis 
chondrodysplasia with joint dislocations gPAPP type  
choreaacanthocytosis  
Choroid Plexus Calcification with Mental Retardation 
chromosome 13q14 deletion syndrome  
chromosome 15q11.2 deletion syndrome  
chromosome 15q13.3 microdeletion syndrome  
chromosome 15q24 deletion syndrome  
chromosome 15q26-qter deletion syndrome  
chromosome 16p11.2 deletion syndrome, 593-kb  
chromosome 17p13.1 deletion syndrome 
chromosome 17p13.3 duplication syndrome  
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 1q21.1 duplication syndrome  
chromosome 2q31.2 deletion syndrome 
chromosome 3q29 microdeletion syndrome  
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB  
chromosome 8q21.11 deletion syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
Chromosome Xq28 Duplication Syndrome  
Chudley-Rozdilsky Syndrome 
classic dopamine transporter deficiency syndrome  
classic galactosemia  
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate, Proliferative Retinopathy, and Developmental Delay  
COACH syndrome +   
Cochlear Deafness with Myopia and Intellectual Impairment 
Cockayne syndrome +   
CODAS syndrome  
Coffin Syndrome 1 
Cohen syndrome  
Cohen-Gibson Syndrome  
cold-induced sweating syndrome +   
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
combined cellular and humoral immune defects with granulomas  
combined D-2- and L-2-hydroxyglutaric aciduria  
combined deficiency of vitamin K-dependent clotting factors 1  
combined deficiency of vitamin K-dependent clotting factors 2  
combined malonic and methylmalonic acidemia  
combined oxidative phosphorylation deficiency 1  
combined oxidative phosphorylation deficiency 10  
combined oxidative phosphorylation deficiency 11  
combined oxidative phosphorylation deficiency 12  
combined oxidative phosphorylation deficiency 13  
combined oxidative phosphorylation deficiency 14  
combined oxidative phosphorylation deficiency 15  
combined oxidative phosphorylation deficiency 16  
combined oxidative phosphorylation deficiency 17  
combined oxidative phosphorylation deficiency 18  
combined oxidative phosphorylation deficiency 19  
combined oxidative phosphorylation deficiency 2  
combined oxidative phosphorylation deficiency 20  
combined oxidative phosphorylation deficiency 21  
combined oxidative phosphorylation deficiency 22  
combined oxidative phosphorylation deficiency 23  
combined oxidative phosphorylation deficiency 24  
combined oxidative phosphorylation deficiency 25  
combined oxidative phosphorylation deficiency 26  
combined oxidative phosphorylation deficiency 27  
combined oxidative phosphorylation deficiency 28  
combined oxidative phosphorylation deficiency 29  
combined oxidative phosphorylation deficiency 3  
combined oxidative phosphorylation deficiency 30  
combined oxidative phosphorylation deficiency 31  
combined oxidative phosphorylation deficiency 32  
combined oxidative phosphorylation deficiency 33  
combined oxidative phosphorylation deficiency 34  
combined oxidative phosphorylation deficiency 35  
combined oxidative phosphorylation deficiency 36  
combined oxidative phosphorylation deficiency 37  
combined oxidative phosphorylation deficiency 38  
combined oxidative phosphorylation deficiency 39  
combined oxidative phosphorylation deficiency 4  
combined oxidative phosphorylation deficiency 40  
combined oxidative phosphorylation deficiency 41  
combined oxidative phosphorylation deficiency 42  
combined oxidative phosphorylation deficiency 43  
combined oxidative phosphorylation deficiency 44  
combined oxidative phosphorylation deficiency 45  
combined oxidative phosphorylation deficiency 46  
combined oxidative phosphorylation deficiency 47  
combined oxidative phosphorylation deficiency 48  
combined oxidative phosphorylation deficiency 49  
combined oxidative phosphorylation deficiency 5  
combined oxidative phosphorylation deficiency 50  
combined oxidative phosphorylation deficiency 51  
combined oxidative phosphorylation deficiency 52  
combined oxidative phosphorylation deficiency 53  
combined oxidative phosphorylation deficiency 54  
combined oxidative phosphorylation deficiency 56  
combined oxidative phosphorylation deficiency 57  
combined oxidative phosphorylation deficiency 7  
combined oxidative phosphorylation deficiency 8  
combined oxidative phosphorylation deficiency 9  
common variable immunodeficiency +   
Compton-North congenital myopathy  
cone-rod dystrophy 21  
cone-rod dystrophy 22  
congenital adrenal insufficiency  
congenital afibrinogenemia +   
congenital amegakaryocytic thrombocytopenia +   
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
congenital diarrhea 5 with tufting enteropathy  
congenital diarrhea 7 with exudative enteropathy  
congenital disorder of deglycosylation 1  
congenital disorder of deglycosylation 2  
congenital disorder of glycosylation Ia  
congenital disorder of glycosylation Iaa  
congenital disorder of glycosylation Ib  
congenital disorder of glycosylation Ic  
congenital disorder of glycosylation Id  
congenital disorder of glycosylation Ie  
congenital disorder of glycosylation If  
congenital disorder of glycosylation Ig  
congenital disorder of glycosylation Ih  
congenital disorder of glycosylation Ii  
congenital disorder of glycosylation Ij  
congenital disorder of glycosylation Ik  
congenital disorder of glycosylation Il  
congenital disorder of glycosylation Im  
congenital disorder of glycosylation In  
congenital disorder of glycosylation Ip  
congenital disorder of glycosylation Iq  
congenital disorder of glycosylation Ir  
congenital disorder of glycosylation It  
congenital disorder of glycosylation Iu  
congenital disorder of glycosylation Iw  
congenital disorder of glycosylation Ix  
congenital disorder of glycosylation type IIa  
congenital disorder of glycosylation type IIb  
congenital disorder of glycosylation type IIc  
congenital disorder of glycosylation type IId  
congenital disorder of glycosylation type IIe  
congenital disorder of glycosylation type IIf  
congenital disorder of glycosylation type IIg  
congenital disorder of glycosylation type IIh  
congenital disorder of glycosylation type IIi  
congenital disorder of glycosylation type IIj  
congenital disorder of glycosylation type IIk  
congenital disorder of glycosylation type IIl  
congenital disorder of glycosylation type IIn  
congenital disorder of glycosylation type IIo  
congenital disorder of glycosylation type IIp  
congenital disorder of glycosylation type IIq  
congenital dyserythropoietic anemia type Ia  
congenital dyserythropoietic anemia type Ib  
congenital dyserythropoietic anemia type II  
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
congenital fibrosis of the extraocular muscles 2  
congenital fibrosis of the extraocular muscles 5  
congenital generalized lipodystrophy +   
congenital glutamine deficiency  
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
congenital heart defects, hamartomas of tongue, and polysyndactyly  
congenital hereditary endothelial dystrophy of cornea  
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
congenital hypothyroidism +   
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
congenital hypotrichosis with juvenile macular dystrophy  
congenital lactase deficiency  
congenital leptin deficiency  
congenital limbs-face contractures-hypotonia-developmental delay syndrome  
congenital malabsorptive diarrhea 4  
congenital merosin-deficient muscular dystrophy 1A +   
congenital muscular dystrophy 1B 
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital muscular dystrophy due to integrin alpha-7 deficiency  
Congenital Muscular Dystrophy plus Mental Retardation 
congenital muscular dystrophy with cataracts and intellectual disability  
congenital muscular dystrophy-dystroglycanopathy type A +   
congenital myasthenic syndrome 10  
congenital myasthenic syndrome 11  
congenital myasthenic syndrome 12  
congenital myasthenic syndrome 13  
congenital myasthenic syndrome 14  
congenital myasthenic syndrome 15  
congenital myasthenic syndrome 16  
congenital myasthenic syndrome 17  
congenital myasthenic syndrome 19  
congenital myasthenic syndrome 1B  
congenital myasthenic syndrome 20  
congenital myasthenic syndrome 21  
congenital myasthenic syndrome 22  
congenital myasthenic syndrome 2C  
congenital myasthenic syndrome 3B  
congenital myasthenic syndrome 3C  
congenital myasthenic syndrome 4A  
congenital myasthenic syndrome 4B  
congenital myasthenic syndrome 4C  
congenital myasthenic syndrome 5  
congenital myasthenic syndrome 6  
congenital myasthenic syndrome 8  
congenital myasthenic syndrome 9  
congenital myopathy 10B  
congenital myopathy 14  
congenital myopathy 17  
congenital myopathy 18  
congenital myopathy 19  
congenital myopathy 1A +   
congenital myopathy 20  
congenital myopathy 21  
congenital myopathy 22A  
congenital myopathy 22B  
congenital myopathy 2B  
congenital myopathy 5  
congenital myopathy 6  
congenital myopathy 9A  
congenital myopathy 9B  
congenital nongoitrous hypothyroidism 1  
congenital nongoitrous hypothyroidism 4  
congenital nongoitrous hypothyroidism 7  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
congenital secretory sodium diarrhea 8  
congenital stationary night blindness 1B  
congenital stationary night blindness 1C  
congenital stationary night blindness 1D  
congenital stationary night blindness 1E  
congenital stationary night blindness 1F  
congenital stationary night blindness 1G  
congenital stationary night blindness 1H  
congenital sucrase-isomaltase deficiency  
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B  
corneal dystrophy-perceptive deafness syndrome  
Cornelia de Lange syndrome +   
corpus callosum agenesis-abnormal genitalia syndrome  
Cortical Blindness, Retardation, and Postaxial Polydactyly 
cortical dysplasia-focal epilepsy syndrome  
corticosterone methyloxidase deficiency 1  
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY  
cortisone reductase deficiency 1  
CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY  
cranioectodermal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1  
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +   
Craniofaciofrontodigital Syndrome 
craniolenticulosutural dysplasia  
craniosynostosis 7  
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
craniotubular dysplasia Ikegawa type  
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies 
Curatolo Cilio Pessagno Syndrome 
Cutis Verticis Gyrata and Mental Deficiency 
cystathioninuria  
cystic fibrosis +   
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 
cystinosis +   
cytochrome P450 oxidoreductase deficiency  
D-2-hydroxyglutaric aciduria 1  
D-glyceric aciduria  
Davis Lafer Syndrome 
De Sanctis-Cacchione syndrome  
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY  
Deafness, Congenital Onychodystrophy, Recessive Form 
deafness-dystonia-optic neuronopathy syndrome  
DEGCAGS SYNDROME  
Der Kaloustian Mcintosh Silver Syndrome 
DeSanto-Shinawi syndrome  
Desbuquois dysplasia +   
developmental and epileptic encephalopathy 101  
developmental and epileptic encephalopathy 102  
developmental and epileptic encephalopathy 105  
developmental and epileptic encephalopathy 106  
developmental and epileptic encephalopathy 107  
developmental and epileptic encephalopathy 110  
developmental and epileptic encephalopathy 12  
developmental and epileptic encephalopathy 15  
developmental and epileptic encephalopathy 16  
developmental and epileptic encephalopathy 18  
developmental and epileptic encephalopathy 21  
developmental and epileptic encephalopathy 23  
developmental and epileptic encephalopathy 25  
developmental and epileptic encephalopathy 28  
developmental and epileptic encephalopathy 29  
developmental and epileptic encephalopathy 3  
developmental and epileptic encephalopathy 31B  
developmental and epileptic encephalopathy 34  
developmental and epileptic encephalopathy 35  
developmental and epileptic encephalopathy 37  
developmental and epileptic encephalopathy 38  
developmental and epileptic encephalopathy 39  
developmental and epileptic encephalopathy 40  
developmental and epileptic encephalopathy 44  
developmental and epileptic encephalopathy 48  
developmental and epileptic encephalopathy 49  
developmental and epileptic encephalopathy 50  
developmental and epileptic encephalopathy 51  
developmental and epileptic encephalopathy 52  
developmental and epileptic encephalopathy 53  
developmental and epileptic encephalopathy 55  
developmental and epileptic encephalopathy 60  
developmental and epileptic encephalopathy 61  
developmental and epileptic encephalopathy 63  
developmental and epileptic encephalopathy 68  
developmental and epileptic encephalopathy 71  
developmental and epileptic encephalopathy 75  
developmental and epileptic encephalopathy 76  
developmental and epileptic encephalopathy 80  
developmental and epileptic encephalopathy 81  
developmental and epileptic encephalopathy 82  
developmental and epileptic encephalopathy 83  
developmental and epileptic encephalopathy 84  
developmental and epileptic encephalopathy 86  
developmental and epileptic encephalopathy 88  
developmental and epileptic encephalopathy 89  
developmental and epileptic encephalopathy 9  
developmental and epileptic encephalopathy 95  
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES  
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities  
Developmental Delay with or without Dysmorphic Facies and Autism  
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES  
DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS  
developmental delay, hypotonia, and impaired language  
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES  
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome 
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Developmental Delay, Language Impairment, and Ocular Abnormalities  
Devriendt syndrome 
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome  
diastrophic dysplasia +   
dicarboxylic aminoaciduria  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Diets-Jongmans Syndrome  
dihydropyrimidinase deficiency  
dilated cardiomyopathy 1X  
dilated cardiomyopathy 2A  
dilated cardiomyopathy 2B  
dilated cardiomyopathy 2C  
dilated cardiomyopathy 2D  
dilated cardiomyopathy 2E  
dilated cardiomyopathy 2F  
dilated cardiomyopathy 2G  
dimethylglycine dehydrogenase deficiency  
diphthamide deficiency syndrome +   
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal arthrogryposis type 5D  
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
distal myopathy with anterior tibial onset  
Distal Transverse Limb Defects with Mental Retardation and Spasticity 
DNA ligase IV deficiency  
Donnai-Barrow syndrome  
Donohue syndrome  
DOORS syndrome  
DOPA-responsive dystonia  
Down syndrome +   
Dubowitz syndrome  
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave 
Duker Weiss Siber syndrome 
Dwarfism Stiff Joint Ocular Abnormalities 
Dwarfism with Tall Vertebrae 
Dwarfism, Levi Type 
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 
Dyggve-Melchior-Clausen disease +   
dyskeratosis congenita +   
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
Dyssegmental Dysplasia with Glaucoma 
dystonia 16  
dystonia 22, adult-onset  
dystonia 22, juvenile-onset  
dystonia 27  
dystonia 31  
dystonia 32  
dystonia 33  
dystonia 35, childhood-onset  
dystonia 37, early-onset with striatal lesions  
early-onset epilepsy 2  
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
EAST syndrome  
ectodermal dysplasia 10B  
ectodermal dysplasia 11B  
ectodermal dysplasia 13  
ectodermal dysplasia 14  
ectodermal dysplasia 15  
ectodermal dysplasia 4  
ectodermal dysplasia 5 
ectodermal dysplasia 6 
ectodermal dysplasia 7  
ectodermal dysplasia 8 
ectodermal dysplasia 9  
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
Ectodermal Dysplasia, Mental Retardation, Syndactyly 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
ectopia lentis with ectopia of pupil  
Ehlers-Danlos syndrome cardiac valvular type  
Ehlers-Danlos syndrome classic-like 1  
Ehlers-Danlos syndrome classic-like 2  
Ehlers-Danlos syndrome dermatosparaxis type  
Ehlers-Danlos syndrome kyphoscoliotic type 1  
Ehlers-Danlos syndrome kyphoscoliotic type 2  
Ehlers-Danlos syndrome musculocontractural type 1  
Ehlers-Danlos syndrome musculocontractural type 2  
Ehlers-Danlos syndrome spondylodysplastic type 1  
Ehlers-Danlos syndrome spondylodysplastic type 2  
Eiken syndrome  
Elliott Ludman Teebi Syndrome 
Ellis-Van Creveld syndrome +   
Emanuel Syndrome 
encephalopathy due to defective mitochondrial and peroxisomal fission 2  
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
endocrine-cerebro-osteodysplasia syndrome  
enhanced S-cone syndrome  
enterokinase deficiency  
epidermodysplasia verruciformis +   
epidermolysis bullosa simplex with muscular dystrophy  
Epilepsy Telangiectasia 
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 4  
erythrokeratodermia variabilis et progressiva 5  
essential fructosuria  
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Faciocardiomelic Syndrome 
facioscapulohumeral muscular dystrophy 2  
facioscapulohumeral muscular dystrophy 3  
facioscapulohumeral muscular dystrophy 4  
factor V deficiency +   
factor VII deficiency  
factor X deficiency  
factor XII deficiency  
factor XIII deficiency +   
Fallot Complex with Severe Mental and Growth Retardation 
familial adenomatous polyposis 2  
familial adenomatous polyposis 3  
familial adenomatous polyposis 4  
familial adult myoclonic epilepsy 5  
familial apolipoprotein C-II deficiency  
familial benign fleck retina  
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Dwarfism with Muscle Spasms 
familial erythrocytosis 2  
familial hemophagocytic lymphohistiocytosis 1 
familial hemophagocytic lymphohistiocytosis 2  
familial hemophagocytic lymphohistiocytosis 3  
familial hemophagocytic lymphohistiocytosis 4  
familial hepatic adenoma  
familial hyperinsulinemic hypoglycemia 1  
familial hyperinsulinemic hypoglycemia 2  
familial hyperinsulinemic hypoglycemia 4  
familial hyperinsulinemic hypoglycemia 8  
familial hypertryptophanemia  
familial isolated trichomegaly  
familial lipase maturation factor 1 deficiency  
familial lipoprotein lipase deficiency +   
familial partial lipodystrophy type 5  
familial partial lipodystrophy type 6  
familial renal glucosuria  
Familial Synovial Chondromatosis with Dwarfism 
familial temporal lobe epilepsy 5  
Fanconi anemia complementation group A +   
Fanconi anemia complementation group C  
Fanconi anemia complementation group D1  
Fanconi anemia complementation group D2  
Fanconi anemia complementation group E  
Fanconi anemia complementation group I  
Fanconi anemia complementation group L  
Fanconi anemia complementation group O  
Fanconi anemia complementation group P  
Fanconi anemia complementation group Q  
Fanconi anemia complementation group S  
Fanconi anemia complementation group T  
Fanconi anemia complementation group U  
Fanconi anemia complementation group V  
Fanconi anemia complementation group W  
Fanconi renotubular syndrome 2  
Fanconi renotubular syndrome 5  
Fanconi-Bickel syndrome  
fatal infantile hypertonic myofibrillar myopathy  
Faundes-Banka Syndrome  
Fazio-Londe disease  
Feingold syndrome +   
Feingold Trainer Syndrome 
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME  
fetal akinesia deformation sequence syndrome 1  
fetal akinesia deformation sequence syndrome 2  
fetal akinesia deformation sequence syndrome 3  
fetal akinesia deformation sequence syndrome 4  
fetal encasement syndrome  
fibrochondrogenesis +   
fibrochondrogenesis 1  
fibrochondrogenesis 2  
fibular hypoplasia and complex brachydactyly  
Filippi syndrome  
Fine-Lubinsky Syndrome  
Fitzsimmons Walson Mellor Syndrome 
Fitzsimmons-McLachlan-Gilbert syndrome 
Focal Epilepsy with Speech Disorder and with or without Mental Retardation  
focal segmental glomerulosclerosis 6  
focal segmental glomerulosclerosis 9  
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fountain Syndrome 
foveal hypoplasia 2  
Frank-Ter Haar syndrome  
Fraser syndrome +   
frontonasal dysplasia 1  
frontonasal dysplasia 2  
frontonasal dysplasia 3  
Fuhrmann syndrome  
fumarase deficiency  
galactose epimerase deficiency  
Galloway-Mowat syndrome +   
Galloway-Mowat syndrome 1  
Galloway-Mowat syndrome 3  
Galloway-Mowat syndrome 4  
gamma-glutamyl transpeptidase deficiency  
gangliosidosis +   
GAPO syndrome  
GARG-MISHRA PROGEROID SYNDROME  
Garret Tripp Syndrome 
Gaucher's disease type III +   
gelatinous drop-like corneal dystrophy  
geleophysic dysplasia 1  
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genitopatellar Syndrome  
geroderma osteodysplasticum  
Ghosal hematodiaphyseal syndrome  
giant axonal neuropathy 1  
Gillespie syndrome  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Gitelman syndrome  
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
glucocorticoid deficiency 1  
glucose-galactose malabsorption  
glutamate formiminotransferase deficiency  
glutamate-cysteine ligase deficiency  
glutaric acidemia I  
glutaric acidemia type 3  
glutathione synthetase deficiency of erythrocytes  
glutatione synthetase deficiency with 5-oxoprolinuria  
glycine encephalopathy +   
glycogen storage disease Ia  
glycogen storage disease Ib  
glycogen storage disease Ic  
glycogen storage disease II +   
glycogen storage disease III +   
glycogen storage disease IV +   
glycogen storage disease IXC  
glycogen storage disease V  
glycogen storage disease VI  
glycogen storage disease VII  
glycogen storage disease XV  
Glycosylphosphatidylinositol Biosynthesis Defect 25  
GNE myopathy  
Goldberg-Shprintzen syndrome  
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Gordon Holmes syndrome  
GRACILE syndrome  
gray platelet syndrome +   
Greenberg dysplasia  
Griscelli syndrome +   
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
growth hormone insensitivity syndrome with immune dysregulation 1  
Growth Hormone Insensitivity with Immune Dysregulation +   
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Grubben de Cock Borghgraef Syndrome 
Gurrieri Sammito Bellussi Syndrome 
Hadziselimovic Syndrome 
Hair Defect with Photosensitivity and Mental Retardation 
Hall Riggs Mental Retardation Syndrome 
Halperin-Birk syndrome  
Hamamy Syndrome  
Harel-Yoon syndrome  
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Heimler syndrome 1  
Heimler syndrome 2  
Hengel-Maroofian-Schols syndrome  
hepatic venoocclusive disease with immunodeficiency  
hereditary angioedema type I  
hereditary arterial and articular multiple calcification syndrome +   
hereditary coproporphyria +   
hereditary folate malabsorption  
hereditary hypophosphatemic rickets with hypercalciuria  
hereditary sensory and autonomic neuropathy type 2A  
hereditary sensory and autonomic neuropathy type 2B  
hereditary sensory and autonomic neuropathy type 5  
hereditary sensory and autonomic neuropathy type 6  
hereditary sensory and autonomic neuropathy type 8  
hereditary sensory neuropathy type 2C  
hereditary sensory neuropathy type 4  
hereditary spastic paraplegia 11  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 15  
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 23  
hereditary spastic paraplegia 24 
hereditary spastic paraplegia 25 
hereditary spastic paraplegia 26  
hereditary spastic paraplegia 27 
hereditary spastic paraplegia 28  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 35  
hereditary spastic paraplegia 39  
hereditary spastic paraplegia 43  
hereditary spastic paraplegia 44  
hereditary spastic paraplegia 45  
hereditary spastic paraplegia 46  
hereditary spastic paraplegia 47  
hereditary spastic paraplegia 48  
hereditary spastic paraplegia 49  
hereditary spastic paraplegia 50  
hereditary spastic paraplegia 51  
hereditary spastic paraplegia 52  
hereditary spastic paraplegia 53  
hereditary spastic paraplegia 54  
hereditary spastic paraplegia 55  
hereditary spastic paraplegia 56  
hereditary spastic paraplegia 57  
hereditary spastic paraplegia 59  
hereditary spastic paraplegia 5A  
hereditary spastic paraplegia 61  
hereditary spastic paraplegia 62  
hereditary spastic paraplegia 63  
hereditary spastic paraplegia 64  
hereditary spastic paraplegia 7  
hereditary spastic paraplegia 70  
hereditary spastic paraplegia 72A  
hereditary spastic paraplegia 74  
hereditary spastic paraplegia 75  
hereditary spastic paraplegia 76  
hereditary spastic paraplegia 77  
hereditary spastic paraplegia 78  
hereditary spastic paraplegia 79B  
hereditary spastic paraplegia 81  
hereditary spastic paraplegia 82  
hereditary spastic paraplegia 83  
hereditary spastic paraplegia 84  
hereditary spastic paraplegia 85  
hereditary spastic paraplegia 86  
hereditary spastic paraplegia 87  
hereditary spastic paraplegia 89  
hereditary spastic paraplegia 90B  
hereditary spastic paraplegia 9B  
hereditary spherocytosis type 1  
hereditary spherocytosis type 3  
hereditary spherocytosis type 5  
Heyn-Sproul-Jackson Syndrome  
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME  
high molecular weight kininogen deficiency  
high myopia-sensorineural deafness syndrome  
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome  
HMG-CoA synthase 2 deficiency  
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
homocystinuria-megaloblastic anemia cblE type  
homocystinuria-megaloblastic anemia cblG type  
Hooft Disease 
Hordnes Engebretsen Knudtson syndrome 
Hoxha-Aliu syndrome  
Hoyeraal Hreidarsson Syndrome  
Hunter-McAlpine Syndrome 
hyaline fibromatosis syndrome  
hydrolethalus syndrome +   
hydroxykynureninuria  
Hydroxylysinuria 
hyper IgE recurrent infection syndrome 2  
hyper IgE recurrent infection syndrome 3  
hyper IgE recurrent infection syndrome 4  
hyperekplexia 1  
hyperekplexia 2  
hyperekplexia 3  
hyperekplexia 4  
Hyperleucine-Isoleucinemia 
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 
hypermethioninemia due to adenosine kinase deficiency  
hyperphosphatemic familial tumoral calcinosis +   
hyperprolinemia type 1  
hyperprolinemia type 2  
hypertelorism, microtia, facial clefting syndrome 
hypervalinemia and hyperleucine-isoleucinemia  
hypochondroplasia  
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypogonadotropic hypogonadism 10 with or without anosmia  
hypogonadotropic hypogonadism 11 with or without anosmia  
hypogonadotropic hypogonadism 12 with or without anosmia  
hypogonadotropic hypogonadism 13 with or without anosmia  
hypogonadotropic hypogonadism 18 with or without anosmia  
hypogonadotropic hypogonadism 22 with or without anosmia  
hypogonadotropic hypogonadism 23 with or without anosmia  
hypogonadotropic hypogonadism 24 without anosmia  
hypogonadotropic hypogonadism 7 with or without anosmia  
hypogonadotropic hypogonadism 8 with or without anosmia  
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +   
hypomyelinating leukodystrophy 10  
hypomyelinating leukodystrophy 11  
hypomyelinating leukodystrophy 12  
hypomyelinating leukodystrophy 13  
hypomyelinating leukodystrophy 14  
hypomyelinating leukodystrophy 15  
hypomyelinating leukodystrophy 17  
hypomyelinating leukodystrophy 18  
hypomyelinating leukodystrophy 2  
hypomyelinating leukodystrophy 20  
hypomyelinating leukodystrophy 21  
hypomyelinating leukodystrophy 23  
hypomyelinating leukodystrophy 26  
hypomyelinating leukodystrophy 3  
hypomyelinating leukodystrophy 4  
hypomyelinating leukodystrophy 5  
hypomyelinating leukodystrophy 7  
hypomyelinating leukodystrophy 8  
hypomyelinating leukodystrophy 9  
hypoparathyroidism-retardation-dysmorphism syndrome  
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
Hypospadias-Mental Retardation Syndrome 
hypotonia, ataxia, and delayed development syndrome  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
hypotonia-cystinuria syndrome  
hypotrichosis 10 
hypotrichosis 15  
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
hypotrichosis-lymphedema-telangiectasia syndrome +   
Ichthyosis and Male Hypogonadism 
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
iminoglycinuria  
immunodeficiency 10  
immunodeficiency 11A  
immunodeficiency 12  
immunodeficiency 15B  
immunodeficiency 16  
immunodeficiency 17  
immunodeficiency 18  
immunodeficiency 19  
immunodeficiency 20  
immunodeficiency 22  
immunodeficiency 23  
immunodeficiency 24  
immunodeficiency 25  
immunodeficiency 26  
immunodeficiency 27A  
immunodeficiency 28  
immunodeficiency 29  
immunodeficiency 30  
immunodeficiency 31B  
immunodeficiency 32B  
immunodeficiency 35  
immunodeficiency 37  
immunodeficiency 38  
immunodeficiency 40  
immunodeficiency 41  
immunodeficiency 42  
immunodeficiency 43  
immunodeficiency 44  
immunodeficiency 45  
immunodeficiency 46  
immunodeficiency 48  
immunodeficiency 51  
immunodeficiency 52  
immunodeficiency 53  
immunodeficiency 54  
immunodeficiency 55  
immunodeficiency 56  
immunodeficiency 57  
immunodeficiency 58  
immunodeficiency 59  
immunodeficiency 61  
immunodeficiency 62  
immunodeficiency 63  
immunodeficiency 64  
immunodeficiency 65  
immunodeficiency 66  
immunodeficiency 69  
immunodeficiency 7  
immunodeficiency 71  
immunodeficiency 72  
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia  
Immunodeficiency 78 with Autoimmunity and Developmental Delay  
immunodeficiency 79  
immunodeficiency 9  
immunodeficiency with hyper IgM type 3  
immunodeficiency with hyper IgM type 5  
immunodeficiency with hyper-IgM type 2  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
immunoglobulin alpha deficiency +   
Impaired intellectual development, anterior maxillary protrusion, and strabismus  
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
infantile cerebellar-retinal degeneration  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 
Infantile Hypotonia with Psychomotor Retardation +   
infantile liver failure syndrome 1  
Infantile Multisystem Neurologic Disease with Osseous Fragility 
infantile parkinsonism-dystonia 2  
inflammatory bowel disease 25  
inflammatory bowel disease 28  
inflammatory poikiloderma with hair abnormalities and acral keratoses  
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA  
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature  
Intellectual Developmental Disorder with Autism and Dysmorphic Facies  
Intellectual Developmental Disorder with Autism and Macrocephaly  
Intellectual Developmental Disorder with Autism and Speech Delay  
intellectual developmental disorder with cardiac arrhythmia  
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES  
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM  
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS  
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
Intellectual Developmental Disorder with Seizures and Language Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS  
intellectual developmental disorder with short stature and behavioral abnormalities  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS  
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy  
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type  
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES  
intellectual disability and myopathy syndrome  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
intermediate spinal muscular atrophy  
interstitial lung disease 1  
isolated cleft palate  
isolated growth hormone deficiency +   
isolated hyperchlorhidrosis  
isolated microphthalmia 1 
isolated microphthalmia 2  
isolated microphthalmia 3  
isolated microphthalmia 5  
isolated microphthalmia 6  
isolated microphthalmia 8  
isolated sulfite oxidase deficiency  
Jackson-Weiss syndrome  
Jagell Holmgren Hofer Syndrome 
Jalili syndrome  
Johanson-Blizzard syndrome  
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Joubert syndrome 14  
Joubert syndrome 15  
Joubert Syndrome 27  
Joubert Syndrome 28  
Joubert syndrome 7  
Joubert syndrome 9  
Juberg Hayward Syndrome  
junctional epidermolysis bullosa Herlitz type +   
junctional epidermolysis bullosa non-Herlitz type +   
junctional epidermolysis bullosa with pyloric atresia  
Kahrizi syndrome  
Kaler Garrity Stern Syndrome 
Kapur Toriello Syndrome  
Karandikar Maria Kamble Syndrome 
karyomegalic interstitial nephritis  
Katsantoni Papadakou Lagoyanni Syndrome 
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Kenny-Caffey syndrome type 1  
Kenny-Caffey syndrome type 2  
Keppen-Lubinsky Syndrome  
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 
keratosis pilaris atrophicans +   
Khalifa Graham Syndrome 
KINSSHIP syndrome  
Kleefstra syndrome +   
Klippel-Feil syndrome 2  
Klippel-Feil syndrome 4  
Kniest dysplasia  
Kohlschutter-Tonz syndrome  
KOHLSCHUTTER-TONZ SYNDROME-LIKE  
Koone Rizzo Elias Syndrome 
Kosztolanyi Syndrome 
Kozlowski Ouvrier Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Kufor-Rakeb syndrome  
KURY-ISIDOR SYNDROME  
Kuzniecky Andermann Syndrome 
Lafora disease +   
Lamb-Shaffer Syndrome  
Lambert Syndrome 
Laplane Fontaine Lagardere Syndrome 
Laron syndrome  
Larsen-like syndrome B3GAT3 type  
late-adult onset retinitis pigmentosa 
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 
Laurence-Moon syndrome  
Leber congenital amaurosis 1  
Leber congenital amaurosis 12  
Leber congenital amaurosis 13  
Leber congenital amaurosis 14  
Leber congenital amaurosis 15  
Leber congenital amaurosis 16  
Leber congenital amaurosis 17  
Leber congenital amaurosis 2  
Leber congenital amaurosis 4  
Leber congenital amaurosis 5  
Leber congenital amaurosis 6  
Leber congenital amaurosis 8  
Leber congenital amaurosis 9  
Lenz-Majewski hyperostotic dwarfism  
Lessel-Kubisch Syndrome  
lethal congenital contracture syndrome +   
leukocyte adhesion deficiency +   
Leukoencephalomyelopathy  
leukoencephalopathy with vanishing white matter +   
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Leydig cell hypoplasia +   
Li-Campeau Syndrome  
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME  
lissencephaly 3 +   
lissencephaly 4  
lissencephaly 5  
lissencephaly 6  
lissencephaly 7 with cerebellar hypoplasia  
lissencephaly 8  
long QT syndrome 1  
long QT syndrome 2  
long QT syndrome 3  
long QT syndrome 5  
long QT syndrome 6  
long QT syndrome 9  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Lubani Al Saleh Teebi Syndrome 
Luscan-Lumish Syndrome  
lymphoproliferative syndrome 1  
lymphoproliferative syndrome 2  
Lynch Lee Murday syndrome 
lysosomal acid lipase deficiency +   
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Mahvash disease  
mal de Meleda  
Male Hypogonadism with Mental Retardation and Skeletal Anomalies 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
mandibuloacral dysplasia type B lipodystrophy  
Mandibulofacial Dysostosis with Mental Deficiency  
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Mental Retardation Syndrome, Autosomal  
Marinesco-Sjogren syndrome  
Martsolf Syndrome +   
MASA syndrome  
McDonough Syndrome 
McKusick-Kaufman syndrome  
Meckel syndrome 13  
megaconial type congenital muscular dystrophy  
megalencephalic leukoencephalopathy with subcortical cysts 1  
megalencephalic leukoencephalopathy with subcortical cysts 2A  
megalencephalic leukoencephalopathy with subcortical cysts 2B  
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
Meier-Gorlin syndrome 1  
Meier-Gorlin syndrome 2  
Meier-Gorlin syndrome 3  
Meier-Gorlin syndrome 4  
Meier-Gorlin syndrome 5  
Meier-Gorlin syndrome 7  
Meier-Gorlin syndrome 8  
MEND syndrome  
Menke-Hennekam Syndrome +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation Associated with Psoriasis 
Mental Retardation Mietens Weber Type 
Mental Retardation Smith Fineman Myers Type 
Mental Retardation Spasticity Ectrodactyly 
Mental Retardation Syndrome, Belgian Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation with Spastic Paraplegia 
Mental Retardation Wolff Type  
Mental Retardation, Buenos Aires Type 
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 
Metatropic Dwarfism, Type II 
metatropic dysplasia  
methemoglobinemia and ambiguous genitalia  
Methionine Malabsorption Syndrome 
methylmalonic aciduria and homocystinuria type cblC  
Microcephalic Osteodysplastic Primordial Dwarfism +   
microcephalic osteodysplastic primordial dwarfism type I  
microcephalic osteodysplastic primordial dwarfism type II  
Microcephalic Primordial Dwarfism Toriello Type 
microcephaly and chorioretinopathy 1  
microcephaly and chorioretinopathy 2  
microcephaly and chorioretinopathy 3  
Microcephaly Deafness Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Cervical Spine Fusion Anomalies 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME  
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
microcephaly, seizures, and developmental delay  
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
microcephaly, short stature, and limb abnormalities  
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microphthalmia and Mental Deficiency 
microphthalmia with limb anomalies  
microvillus inclusion disease +   
Microvillus Inclusion Disease 2  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Mirhosseini-Holmes-Walton Syndrome 
mismatch repair cancer syndrome +   
mitochondrial complex IV deficiency nuclear type 1  
mitochondrial complex IV deficiency nuclear type 10  
mitochondrial complex IV deficiency nuclear type 11  
mitochondrial complex IV deficiency nuclear type 12  
mitochondrial complex IV deficiency nuclear type 13  
mitochondrial complex IV deficiency nuclear type 14  
mitochondrial complex IV deficiency nuclear type 15  
mitochondrial complex IV deficiency nuclear type 16  
mitochondrial complex IV deficiency nuclear type 17  
mitochondrial complex IV deficiency nuclear type 18  
mitochondrial complex IV deficiency nuclear type 19  
mitochondrial complex IV deficiency nuclear type 2  
mitochondrial complex IV deficiency nuclear type 20  
mitochondrial complex IV deficiency nuclear type 21  
mitochondrial complex IV deficiency nuclear type 22  
mitochondrial complex IV deficiency nuclear type 23  
mitochondrial complex IV deficiency nuclear type 3  
mitochondrial complex IV deficiency nuclear type 4  
mitochondrial complex IV deficiency nuclear type 6  
mitochondrial complex IV deficiency nuclear type 7  
mitochondrial complex IV deficiency nuclear type 8  
mitochondrial complex IV deficiency nuclear type 9  
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B  
mitochondrial complex V (ATP synthase) deficiency nuclear type 5  
mitochondrial complex V (ATP synthase) deficiency nuclear type 7  
mitochondrial DNA depletion syndrome 1  
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 15  
mitochondrial DNA depletion syndrome 16  
mitochondrial DNA depletion syndrome 16B  
mitochondrial DNA depletion syndrome 17  
mitochondrial DNA depletion syndrome 18  
mitochondrial DNA depletion syndrome 19  
mitochondrial DNA depletion syndrome 2  
mitochondrial DNA depletion syndrome 20  
mitochondrial DNA depletion syndrome 3  
mitochondrial DNA depletion syndrome 4B  
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 6  
mitochondrial DNA depletion syndrome 8A  
mitochondrial DNA depletion syndrome 8b  
mitochondrial DNA depletion syndrome 9  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
mitochondrial pyruvate carrier deficiency  
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency  
mitochondrial trifunctional protein deficiency +   
Miyoshi muscular dystrophy 1  
Miyoshi muscular dystrophy 3  
Mollica-Pavone-Antener Syndrome 
MOMES Syndrome 
Monosomy 7 Myelodysplasia and Leukemia Syndrome +   
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
mosaic variegated aneuploidy syndrome 1  
mosaic variegated aneuploidy syndrome 2  
mosaic variegated aneuploidy syndrome 3  
mosaic variegated aneuploidy syndrome 4  
Mosaic Variegated Aneuploidy Syndrome 5  
Mosaic Variegated Aneuploidy Syndrome 6  
Mowat-Wilson syndrome  
mucolipidosis III alpha/beta +   
mucolipidosis III gamma  
mucopolysaccharidosis Ih  
mucopolysaccharidosis Ih/s  
mucopolysaccharidosis IVA  
mucopolysaccharidosis type IIIA  
mucopolysaccharidosis type IIIB  
mucopolysaccharidosis type IIIC  
mucopolysaccharidosis type IIID  
mucopolysaccharidosis type IVB  
mucosulfatidosis  
mulibrey nanism  
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple benign circumferential skin creases on limbs +   
multiple congenital anomalies-hypotonia-seizures syndrome 1  
multiple congenital anomalies-hypotonia-seizures syndrome 3  
multiple congenital anomalies-hypotonia-seizures syndrome 4  
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
multiple epiphyseal dysplasia 4  
multiple epiphyseal dysplasia 7  
multiple intestinal atresia  
multiple mitochondrial dysfunctions syndrome 1  
multiple mitochondrial dysfunctions syndrome 2  
multiple mitochondrial dysfunctions syndrome 3  
multiple mitochondrial dysfunctions syndrome 4  
multiple mitochondrial dysfunctions syndrome 5  
multiple mitochondrial dysfunctions syndrome 6  
muscular dystrophy-dystroglycanopathy type B1  
muscular dystrophy-dystroglycanopathy type B14  
muscular dystrophy-dystroglycanopathy type B15  
muscular dystrophy-dystroglycanopathy type B2  
muscular dystrophy-dystroglycanopathy type B3  
muscular dystrophy-dystroglycanopathy type B4  
muscular dystrophy-dystroglycanopathy type B5  
muscular dystrophy-dystroglycanopathy type B6  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
myofibrillar myopathy 10  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
myopathy with extrapyramidal signs  
Myotonia with Skeletal Abnormalities and Mental Retardation 
N syndrome 
N-acetylglutamate synthase deficiency  
Nagashima-type palmoplantar keratosis  
Native American myopathy  
nemaline myopathy 1  
nemaline myopathy 10  
nemaline myopathy 11  
nemaline myopathy 2  
nemaline myopathy 3  
nemaline myopathy 5A  
nemaline myopathy 5B  
nemaline myopathy 7  
nemaline myopathy 8  
nemaline myopathy 9  
neonatal diabetes mellitus with congenital hypothyroidism  
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome  
neonatal-onset type II citrullinemia  
nephrogenic diabetes insipidus type 2  
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 
nephronophthisis +   
nephrotic syndrome type 1  
nephrotic syndrome type 10  
nephrotic syndrome type 11  
nephrotic syndrome type 12  
nephrotic syndrome type 13  
nephrotic syndrome type 14  
nephrotic syndrome type 15  
nephrotic syndrome type 16  
nephrotic syndrome type 17  
nephrotic syndrome type 18  
nephrotic syndrome type 19  
nephrotic syndrome type 2  
nephrotic syndrome type 21  
nephrotic syndrome type 22  
nephrotic syndrome type 23  
nephrotic syndrome type 3  
nephrotic syndrome type 5  
nephrotic syndrome type 6  
nephrotic syndrome type 7  
nephrotic syndrome type 8  
nephrotic syndrome type 9  
Nestor-Guillermo progeria syndrome  
Neuhauser Syndrome 
neurodegeneration with brain iron accumulation 2A  
neurodegeneration with brain iron accumulation 2B  
neurodegeneration with brain iron accumulation 4  
neurodegeneration with brain iron accumulation 6  
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY  
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities  
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
neurodevelopmental disorder with midbrain and hindbrain malformations  
Neurofaciodigitorenal Syndrome 
neuronal ceroid lipofuscinosis 1  
neuronal ceroid lipofuscinosis 10  
neuronal ceroid lipofuscinosis 11  
neuronal ceroid lipofuscinosis 13  
neuronal ceroid lipofuscinosis 2  
neuronal ceroid lipofuscinosis 3  
neuronal ceroid lipofuscinosis 5  
neuronal ceroid lipofuscinosis 6A  
neuronal ceroid lipofuscinosis 6B  
neuronal ceroid lipofuscinosis 7  
neuronal ceroid lipofuscinosis 8  
neuronal ceroid lipofuscinosis 8 northern epilepsy variant  
neuronal ceroid lipofuscinosis 9 
Nezelof syndrome 
NF1 Microduplication Syndrome 
Nicolaides-Baraitser syndrome  
Nievergelt Syndrome 
Nijmegen breakage syndrome +   
Nizon-Isidor Syndrome  
Non-Lissencephalic Cortical Dysplasia 
non-syndromic intellectual disability +   
nonphotosensitive trichothiodystrophy +   
nonphotosensitive trichothiodystrophy 4  
nonphotosensitive trichothiodystrophy 6  
nonphotosensitive trichothiodystrophy 7  
nonprogressive cerebellar ataxia with mental retardation  
nonsyndromic congenital nail disorder 3  
nonsyndromic congenital nail disorder 4  
nonsyndromic congenital nail disorder 9 
Noonan syndrome 2  
Norman-Roberts syndrome  
nuclear type mitochondrial complex I deficiency 1  
nuclear type mitochondrial complex I deficiency 10  
nuclear type mitochondrial complex I deficiency 11  
nuclear type mitochondrial complex I deficiency 13  
nuclear type mitochondrial complex I deficiency 14  
nuclear type mitochondrial complex I deficiency 15  
nuclear type mitochondrial complex I deficiency 16  
nuclear type mitochondrial complex I deficiency 17  
nuclear type mitochondrial complex I deficiency 18  
nuclear type mitochondrial complex I deficiency 19  
nuclear type mitochondrial complex I deficiency 2  
nuclear type mitochondrial complex I deficiency 20  
nuclear type mitochondrial complex I deficiency 21  
nuclear type mitochondrial complex I deficiency 22  
nuclear type mitochondrial complex I deficiency 23  
nuclear type mitochondrial complex I deficiency 24  
nuclear type mitochondrial complex I deficiency 25  
nuclear type mitochondrial complex I deficiency 26  
nuclear type mitochondrial complex I deficiency 27  
nuclear type mitochondrial complex I deficiency 28  
nuclear type mitochondrial complex I deficiency 29  
nuclear type mitochondrial complex I deficiency 3  
nuclear type mitochondrial complex I deficiency 31  
nuclear type mitochondrial complex I deficiency 32  
nuclear type mitochondrial complex I deficiency 33  
nuclear type mitochondrial complex I deficiency 34  
nuclear type mitochondrial complex I deficiency 35  
nuclear type mitochondrial complex I deficiency 4  
nuclear type mitochondrial complex I deficiency 5  
nuclear type mitochondrial complex I deficiency 6  
nuclear type mitochondrial complex I deficiency 7  
nuclear type mitochondrial complex I deficiency 8  
nuclear type mitochondrial complex I deficiency 9  
Obesity, Hyperphagia, and Developmental Delay  
ocular albinism with sensorineural deafness  
oculocutaneous albinism +   
oculocutaneous albinism type IB  
Oculopalatocerebral Syndrome 
Ogden syndrome  
Oguchi disease-1  
Oguchi disease-2  
Ohdo syndrome +   
Okur-Chung Neurodevelopmental Syndrome  
Oliver Syndrome 
Oliver-McFarlane syndrome  
omodysplasia 1  
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME  
Onychotrichodysplasia and Neutropenia 
optic atrophy 10  
optic atrophy 11  
optic atrophy 6 
optic atrophy 7  
optic atrophy 9  
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME  
optic disc anomalies with retinal and/or macular dystrophy  
orofacial cleft 14 
orofacial cleft 7 +   
orofaciodigital syndrome II  
orofaciodigital syndrome III  
orofaciodigital syndrome IV  
orofaciodigital syndrome IX  
orofaciodigital syndrome V  
orofaciodigital syndrome XIV  
orofaciodigital syndrome XIX  
orofaciodigital syndrome XVI  
orofaciodigital syndrome XVII  
orofaciodigital syndrome XVIII  
orofaciodigital syndrome XX  
osteogenesis imperfecta type 10  
osteogenesis imperfecta type 11  
osteogenesis imperfecta type 12  
osteogenesis imperfecta type 13  
osteogenesis imperfecta type 15  
osteogenesis imperfecta type 17  
osteogenesis imperfecta type 18  
osteogenesis imperfecta type 20  
osteogenesis imperfecta type 21  
osteogenesis imperfecta type 7  
osteogenesis imperfecta type 8  
osteogenesis imperfecta type 9  
Osteolysis Syndrome, Recessive 
Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay  
osteoporosis-pseudoglioma syndrome  
osteosclerotic metaphyseal dysplasia  
otospondylomegaepiphyseal dysplasia, autosomal recessive  
otulipenia  
ovarian dysgenesis 1  
ovarian dysgenesis 10  
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
ovarian dysgenesis 9  
oxoglutarate dehydrogenase deficiency  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
Paget's disease of bone 5  
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
palmoplantar keratoderma and woolly hair +   
pancreatic agenesis 1  
pancreatic agenesis 2  
pantothenate kinase-associated neurodegeneration  
Papillon-Lefevre disease +   
parastremmatic dwarfism  
Parkinson's disease 14  
Parkinson's disease 15  
Parkinson's disease 19A  
Parkinson's disease 2  
Parkinson's disease 20  
Parkinson's disease 23  
Parkinson's disease 25  
Parkinson's disease 6  
Parkinson's disease 7  
paroxysmal nocturnal hemoglobinuria +   
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Partington Anderson Syndrome 
Pashayan Syndrome 
Patella Hypoplasia Mental Retardation 
Pavone Fiumara Rizzo Syndrome 
peeling skin syndrome +   
Pendred syndrome  
pentosuria  
Periventricular Nodular Heterotopia 7  
permanent neonatal diabetes mellitus +   
Perniola Krajewska Carnevale Syndrome 
peroxisomal acyl-CoA oxidase deficiency  
Peroxisome biogenesis disorder 10B  
Peroxisome biogenesis disorder 11B  
peroxisome biogenesis disorder 14B  
peroxisome biogenesis disorder 1B  
peroxisome biogenesis disorder 2B  
peroxisome biogenesis disorder 3B  
Peroxisome biogenesis disorder 4B  
Peroxisome biogenesis disorder 5B  
Peroxisome biogenesis disorder 6B  
Peroxisome biogenesis disorder 7B  
Peroxisome biogenesis disorder 8B  
Peroxisome biogenesis disorder 9B  
Perrault syndrome +   
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Tietze Welte Syndrome 
PHARC syndrome  
PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
photosensitive trichothiodystrophy 1  
photosensitive trichothiodystrophy 2  
photosensitive trichothiodystrophy 3  
Pierpont syndrome  
Pierson syndrome  
Pilotto Syndrome 
Pitt-Hopkins syndrome +   
Pitt-Hopkins-like syndrome 2  
Piussan Lenaerts Mathieu syndrome 
plasminogen deficiency type I  
platelet-type bleeding disorder 10  
platelet-type bleeding disorder 11  
platelet-type bleeding disorder 18  
platelet-type bleeding disorder 19  
platelet-type bleeding disorder 8  
poikiloderma with neutropenia  
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
polyhydramnios, megalencephaly, and symptomatic epilepsy  
pontocerebellar hypoplasia type 11  
pontocerebellar hypoplasia type 12  
pontocerebellar hypoplasia type 13  
pontocerebellar hypoplasia type 14  
pontocerebellar hypoplasia type 15  
pontocerebellar hypoplasia type 16  
pontocerebellar hypoplasia type 1A  
pontocerebellar hypoplasia type 1B  
pontocerebellar hypoplasia type 1C  
pontocerebellar hypoplasia type 1D  
pontocerebellar hypoplasia type 1E  
pontocerebellar hypoplasia type 1F  
pontocerebellar hypoplasia type 2A  
pontocerebellar hypoplasia type 2B  
pontocerebellar hypoplasia type 2C  
pontocerebellar hypoplasia type 2D  
pontocerebellar hypoplasia type 2E  
pontocerebellar hypoplasia type 2F  
poor metabolism of thiopurines +   
postaxial acrofacial dysostosis  
Prader-Willi syndrome +   
preaxial polydactyly I  
primary autosomal recessive microcephaly +   
primary ciliary dyskinesia 38  
primary ciliary dyskinesia 39  
primary ciliary dyskinesia 40  
primary ciliary dyskinesia 41  
primary ciliary dyskinesia 42  
primary ciliary dyskinesia 44  
primary ciliary dyskinesia 45  
primary coenzyme Q10 deficiency 9  
Primary Lymphedema with Myelodysplasia  
primary ovarian insufficiency 10  
primary ovarian insufficiency 12  
primary ovarian insufficiency 13  
primary ovarian insufficiency 14  
primary ovarian insufficiency 15  
primary ovarian insufficiency 18  
primary ovarian insufficiency 19  
primary ovarian insufficiency 8  
primary ovarian insufficiency 9  
primary pulmonary hypertension +   
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME  
Primrose Syndrome  
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive +   
progressive familial intrahepatic cholestasis 1  
progressive familial intrahepatic cholestasis 2  
progressive familial intrahepatic cholestasis 3  
progressive familial intrahepatic cholestasis 4  
progressive familial intrahepatic cholestasis 5  
progressive leukoencephalopathy with ovarian failure  
progressive myoclonus epilepsy 10  
progressive myoclonus epilepsy 1A  
progressive myoclonus epilepsy 1B  
progressive myoclonus epilepsy 3  
progressive myoclonus epilepsy 4  
progressive myoclonus epilepsy 6  
progressive myoclonus epilepsy 8  
progressive myoclonus epilepsy 9  
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
progressive pseudorheumatoid arthropathy of childhood  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
prolidase deficiency  
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome  
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 
Proportionate Dwarfism with Hip Dislocation 
proprotein convertase 1/3 deficiency  
proteasome-associated autoinflammatory syndrome 1  
proteosome-associated autoinflammatory syndrome 3  
proteosome-associated autoinflammatory syndrome 4  
proteosome-associated autoinflammatory syndrome 5  
prothrombin deficiency +   
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation  
prune belly syndrome +   
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
Pseudo-TORCH Syndrome +   
pseudo-TORCH syndrome 1  
Pseudoaminopterin Syndrome 
Pseudodiastrophic Dysplasia 
Pseudouridinuria and Mental Defect 
pseudoxanthoma elasticum +   
pulmonary venoocclusive disease 2  
purine nucleoside phosphorylase deficiency  
pycnodysostosis  
pyridoxine-dependent epilepsy +   
pyruvate kinase deficiency of red cells  
Qazi Markouizos syndrome 
RADIO-TARTAGLIA SYNDROME  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rahman Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications +   
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
rapadilino syndrome  
RAUCH-STEINDL SYNDROME  
Reardon Wilson Cavanagh Syndrome 
recessive dystrophic epidermolysis bullosa  
Refractory Anemia +   
Refsum Disease with Increased Pipecolic Acidemia 
restrictive dermopathy 1  
reticular dysgenesis  
retinal cone dystrophy 3B  
retinal dystrophy with leukodystrophy  
retinitis pigmentosa 1  
retinitis pigmentosa 12  
retinitis pigmentosa 14  
retinitis pigmentosa 19  
retinitis pigmentosa 20  
retinitis pigmentosa 25  
retinitis pigmentosa 26  
retinitis pigmentosa 28  
retinitis pigmentosa 29 
retinitis pigmentosa 35  
retinitis pigmentosa 37  
retinitis pigmentosa 38  
retinitis pigmentosa 4  
retinitis pigmentosa 40  
retinitis pigmentosa 41  
retinitis pigmentosa 45  
retinitis pigmentosa 50  
retinitis pigmentosa 56  
retinitis pigmentosa 57  
retinitis pigmentosa 59  
retinitis pigmentosa 62  
retinitis pigmentosa 68  
retinitis pigmentosa 69  
retinitis pigmentosa 7  
retinitis pigmentosa 71  
retinitis pigmentosa 72  
retinitis pigmentosa 73  
retinitis pigmentosa 74  
retinitis pigmentosa 75  
retinitis pigmentosa 77  
retinitis pigmentosa 81  
retinitis pigmentosa 84  
retinitis pigmentosa 85  
retinitis pigmentosa 88  
retinitis pigmentosa 90  
retinitis pigmentosa with or without situs inversus  
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
rhizomelic chondrodysplasia punctata +   
Richards-Rundle Syndrome 
Riddle syndrome  
right atrial isomerism  
rigid spine muscular dystrophy 1  
Ritscher-Schinzel syndrome 1  
Ritscher-Schinzel syndrome 2  
RNASET2-deficient cystic leukoencephalopathy  
Roberts syndrome  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Robinow syndrome +   
Roifman-Chitayat Syndrome  
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome  
Rommen Mueller Sybert Syndrome 
Rubinstein-Taybi syndrome +   
Rud Syndrome 
Ruijs-Aalfs syndrome  
Ruvalcaba Syndrome 
Ruzicka Goerz Anton syndrome 
salt and pepper syndrome  
Sammartino De Crecchio Syndrome 
Sandestig-Stefanova syndrome  
Sao Paulo MCA/MR Syndrome 
sarcosinemia  
SATB2-associated syndrome  
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schimke immuno-osseous dysplasia  
Schindler disease +   
Schinzel Giedion syndrome  
Schinzel type phocomelia  
Schofer Beetz Bohl Syndrome 
Scholte Syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Schwartz-Jampel syndrome 1  
Sclerosing Bone Dysplasia, Mental Retardation 
sclerosteosis 1  
sclerosteosis 2  
Seckel Like Syndrome Type Buebel 
Seckel syndrome +   
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Seemanova Lesny Syndrome 
Sengers syndrome  
Senior-Loken syndrome +   
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
sepiapterin reductase deficiency  
severe combined immunodeficiency with sensitivity to ionizing radiation  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive +   
severe congenital neutropenia 3  
severe congenital neutropenia 4 +   
severe congenital neutropenia 5  
severe congenital neutropenia 6  
severe congenital neutropenia 7  
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Shaheen Syndrome  
Short Limb Dwarfism Al Gazali Type  
Short Stature and Facioauriculothoracic Malformations 
Short Stature and Microcephaly with Genital Anomalies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature with Nonspecific Skeletal Abnormalities 1  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
SHORT STATURE, DAUBER-ARGENTE TYPE  
Short Stature, Developmental Delay, and Congenital Heart Defects  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +   
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2  
short stature, hearing loss, retinitis pigmentosa, and distinctive facies  
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY  
SHORT STATURE-MICROGNATHIA SYNDROME  
Short Stature-Obesity Syndrome 
short-rib thoracic dysplasia 10 with or without polydactyly  
short-rib thoracic dysplasia 11 with or without polydactyly  
short-rib thoracic dysplasia 13 with or without polydactyly  
short-rib thoracic dysplasia 14 with polydactyly  
short-rib thoracic dysplasia 18 with polydactyly  
short-rib thoracic dysplasia 19 with or without polydactyly  
short-rib thoracic dysplasia 6 with or without polydactyly  
short-rib thoracic dysplasia 7 with or without polydactyly  
short-rib thoracic dysplasia 8 with or without polydactyly  
short-rib thoracic dysplasia 9 with or without polydactyly  
sickle cell anemia +   
Siddiqi syndrome  
sideroblastic anemia 5  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Simpson-Golabi-Behmel syndrome type 1  
Singh Chhaparwal Dhanda Syndrome 
sitosterolemia +   
Sjogren-Larsson syndrome +   
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE  
Sketetal Dysplasia Coarse Facies Mental Retardation  
Smith-Kingsmore Syndrome  
Snijders Blok-Campeau Syndrome  
Snijders Blok-Fisher Syndrome  
SOST-related sclerosing bone dysplasia  
spastic ataxia +   
spastic ataxia 2  
spastic ataxia 3  
spastic ataxia 4  
spastic ataxia 5  
spastic ataxia 8  
Spastic Diplegia Infantile Type 
Spastic Paraplegia, Ataxia, and Mental Retardation 
Spastic Paraplegia, Epilepsy, Mental Retardation 
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY  
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
Spastic Paresis, Glaucoma, and Mental Retardation 
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
spastic quadriplegic cerebral palsy 3  
spermatogenic failure 13  
spermatogenic failure 14  
spermatogenic failure 15  
spermatogenic failure 16  
spermatogenic failure 17  
spermatogenic failure 18  
spermatogenic failure 19  
spermatogenic failure 20  
spermatogenic failure 21  
spermatogenic failure 22  
spermatogenic failure 23  
spermatogenic failure 24  
spermatogenic failure 25  
spermatogenic failure 26  
spermatogenic failure 27  
spermatogenic failure 28  
spermatogenic failure 29  
spermatogenic failure 30  
spermatogenic failure 31  
spermatogenic failure 33  
spermatogenic failure 34  
spermatogenic failure 35  
spermatogenic failure 37  
spermatogenic failure 38  
spermatogenic failure 39  
spermatogenic failure 40  
spermatogenic failure 41  
spermatogenic failure 42  
spermatogenic failure 43  
spermatogenic failure 44  
spermatogenic failure 45  
spermatogenic failure 46  
spermatogenic failure 47  
spermatogenic failure 48  
spermatogenic failure 49  
spermatogenic failure 5  
spermatogenic failure 50  
spermatogenic failure 51  
spermatogenic failure 52  
spermatogenic failure 53  
spermatogenic failure 54  
spermatogenic failure 55  
spermatogenic failure 56  
spermatogenic failure 57  
spermatogenic failure 58  
spermatogenic failure 59  
spermatogenic failure 6  
spermatogenic failure 60  
spermatogenic failure 61  
spermatogenic failure 62  
spermatogenic failure 63  
spermatogenic failure 64  
spermatogenic failure 65  
spermatogenic failure 66  
spermatogenic failure 67  
spermatogenic failure 68  
spermatogenic failure 69  
spermatogenic failure 7  
spermatogenic failure 70  
spermatogenic failure 71  
spermatogenic failure 72  
spermatogenic failure 73  
spermatogenic failure 74  
spermatogenic failure 75  
spermatogenic failure 76  
spermatogenic failure 77  
spermatogenic failure 78  
spermatogenic failure 79  
spermatogenic failure 80  
spermatogenic failure 81  
spermatogenic failure 82  
spermatogenic failure 83  
spermatogenic failure 84  
spermatogenic failure 85  
spermatogenic failure 86  
spermatogenic failure 87  
spermatogenic failure 88  
spermatogenic failure 89  
spermatogenic failure 9  
spermatogenic failure 90  
spermatogenic failure 91  
spermatogenic failure 92  
spermatogenic failure 93  
spermatogenic failure 94  
spermatogenic failure 95  
Spinal Muscular Atrophy with Mental Retardation 
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
spinal muscular atrophy with progressive myoclonic epilepsy  
spinocerebellar ataxia type 17  
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 6  
SPOAN syndrome  
spondylocarpotarsal synostosis syndrome  
Spondylocostal Dysostosis, Autosomal Recessive +   
spondyloepimetaphyseal dysplasia with joint laxity type 1  
spondyloepimetaphyseal dysplasia with joint laxity type 3  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Sponastrime type  
spondyloepiphyseal dysplasia Kondo-Fu type  
spondyloepiphyseal dysplasia tarda with characteristic facies 
spondyloepiphyseal dysplasia tarda with intellectual disability 
Spondyloepiphyseal Dysplasia Tarda, Toledo Type 
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis  
spondylometaepiphyseal dysplasia, short limb-hand type  
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
spondylometaphyseal dysplasia Sedaghatian type  
spondylometaphyseal dysplasia with cone-rod dystrophy  
spondylometaphyseal dysplasia with corneal dystrophy  
Stevenson-Carey Syndrome 
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS  
succinic semialdehyde dehydrogenase deficiency  
Sucrosuria, Hiatus Hernia and Mental Retardation 
Supernumerary Der(22)t(8;22) Syndrome 
syndromic intellectual disability +   
syndromic microphthalmia 9  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
TANGO2-related metabolic encephalopathy and arrythmias  
Temple-Baraitser syndrome  
temtamy preaxial brachydactyly syndrome  
Temtamy syndrome  
Tenorio Syndrome  
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
tetraamelia syndrome 1  
tetraamelia syndrome 2  
Tetrasomy X 
thalassemia +   
THAUVIN-ROBINET-FAIVRE SYNDROME  
Therapy-Related Myeloid Neoplasm 
thiamine-responsive megaloblastic anemia syndrome  
Thoraco Limb Dysplasia Rivera Type 
Thoracomelic Dysplasia 
thrombocytopenia-absent radius syndrome  
thyroid dyshormonogenesis 1  
thyroid dyshormonogenesis 2A  
thyroid dyshormonogenesis 3  
thyroid dyshormonogenesis 4  
thyroid dyshormonogenesis 5  
thyroid dyshormonogenesis 6  
Tolchin-Le Caignec Syndrome  
Tonoki Syndrome 
torsion dystonia 17 
torsion dystonia 2  
transient bullous dermolysis of the newborn  
transient infantile liver failure  
Treacher Collins syndrome 2  
Treacher Collins syndrome 3  
Trichodental Syndrome 
trichohepatoenteric syndrome +   
trimethylaminuria  
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME  
triple-A syndrome  
Troyer syndrome  
Tryptophanuria with Dwarfism 
Tsukahara Syndrome  
Tukel syndrome 
Turnpenny-Fry Syndrome  
Ullrich congenital muscular dystrophy +   
Ulnar Hypoplasia with Mental Retardation 
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
Upton Young Syndrome 
urocanase deficiency  
urofacial syndrome +   
Usher syndrome +   
Usher syndrome type 1D +   
Usher syndrome type 2C  
UV-sensitive syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
Van Bogaert-Hozay Syndrome 
Van Den Bosch Syndrome 
Van den Ende-Gupta syndrome  
Van Maldergem syndrome +   
Vasquez Hurst Sotos Syndrome 
ventriculomegaly - cystic kidney disease  
Verloes Gillerot Fryns Syndrome 
VERVERI-BRADY SYNDROME  
Vici syndrome  
Viljoen Kallis Voges Syndrome 
Vissers-Bodmer syndrome  
visual impairment and progressive phthisis bulbi  
vitamin D-dependent rickets type 1A  
vitamin D-dependent rickets type 1B  
vitamin D-dependent rickets type 2A  
Volcke Soekarman Syndrome 
Waardenburg syndrome type 2A  
WAGR syndrome +   
Waisman syndrome  
Walker Dyson Syndrome 
Walker-Warburg syndrome +   
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome  
Warsaw breakage syndrome  
Watson syndrome  
Weill-Marchesani syndrome +   
WEISS-KRUSZKA SYNDROME  
Werner syndrome +   
WHIM syndrome 2  
Wiedemann Grosse Dibbern Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Wiedemann-Rautenstrauch syndrome  
Wiedemann-Steiner syndrome  
Williams-Beuren syndrome +   
Winship Viljoen Leary Syndrome 
Wolcott-Rallison syndrome  
Wolfram syndrome 1  
Wolfram syndrome 2  
Woodhouse-Sakati syndrome  
Worster-Drought Syndrome  
wrinkly skin syndrome  
X-Linked Intellectual Developmental Disorders +   
xanthinuria +   
xeroderma pigmentosum +   
XFE progeroid syndrome  
Yoon-Bellen neurodevelopmental syndrome  
Young Hughes Syndrome 
Yunis-Varon syndrome  
Zaki syndrome  
Zazam Sheriff Phillips Syndrome 
Zechi-Ceide Syndrome 
Zellweger syndrome +   
Zerres Rietschel Majewski Syndrome 
ZTTK syndrome  

Synonyms
Exact Synonyms: AMED SYNDROME, DIGENIC ;   AMEDS ;   BMFS7 ;   BONE MARROW FAILURE SYNDROME 7, DIGENIC
Primary IDs: MIM:619151
Alternate IDs: DOID:9000959
Xrefs: NCI:C185246
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/33355142/ "DO" "DO"

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