Path 1 |
disease |
15417 |
 |
Developmental Disease |
13505 |
 |
Neurodevelopmental Disorders |
6759 |
 |
intellectual disability |
4287 |
 |
AGAT deficiency |
17 |
 |
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency |
1 |
 |
AMED syndrome |
2 |
 |
AMME complex |
0 |
 |
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION |
1 |
 |
Absent Eyebrows and Eyelashes with Mental Retardation |
0 |
 |
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations |
0 |
 |
Akesson Syndrome |
0 |
 |
Al Gazali Aziz Salem Syndrome |
0 |
 |
Al-Raqad Syndrome |
1 |
 |
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus |
0 |
 |
Alazami Syndrome |
2 |
 |
Alazami-Yuan Syndrome |
3 |
 |
Alopecia Contractures Dwarfism Mental Retardation |
0 |
 |
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality |
0 |
 |
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan |
0 |
 |
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis |
0 |
 |
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation |
0 |
 |
Amyotrophic Dystonic Paraplegia |
0 |
 |
Ansell Bywaters Elderking Syndrome |
0 |
 |
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation |
0 |
 |
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation |
0 |
 |
Arthrogryposis, Impaired Intellectual Development, and Seizures |
3 |
 |
Au-Kline Syndrome |
5 |
 |
Aughton Syndrome |
0 |
 |
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation |
0 |
 |
Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development |
2 |
 |
Ayme-Gripp syndrome |
1 |
 |
BDV Syndrome |
1 |
 |
BURATTI-HAREL SYNDROME |
2 |
 |
Baraitser Rodeck Garner syndrome |
0 |
 |
Baraitser-Winter syndrome + |
13 |
 |
Basel-Vanagaite-Smirin-Yosef syndrome |
1 |
 |
Battaglia Neri Syndrome |
0 |
 |
Beaulieu-Boycott-Innes Syndrome |
2 |
 |
Behr syndrome |
1 |
 |
Bellini Chiumello Rimoldi Syndrome |
0 |
 |
Biemond Syndrome II |
0 |
 |
Birk-Barel syndrome |
2 |
 |
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation |
0 |
 |
Bohring Syndrome |
2 |
 |
Boudhina Yedes Khiari syndrome |
0 |
 |
Bresheck/Bresek Syndrome |
0 |
 |
Brunner syndrome |
3 |
 |
Bullous Dystrophy, Hereditary Macular Type |
0 |
 |
C syndrome |
1 |
 |
CAHMR Syndrome |
0 |
 |
CATIFA Syndrome |
1 |
 |
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM |
1 |
 |
CHIME syndrome |
1 |
 |
Camera Marugo Cohen Syndrome |
0 |
 |
Cantalamessa Baldini Ambrosi Syndrome |
0 |
 |
Cantu Sanchez-Corona Fragoso Syndrome |
0 |
 |
Cartwright Nelson Fryns Syndrome |
0 |
 |
Cataracts, Ataxia, Short Stature, and Mental Retardation |
0 |
 |
Cephalin Lipidosis |
0 |
 |
Cerebral Visual Impairment and Intellectual Disability |
18 |
 |
Cerebrooculonasal Syndrome |
0 |
 |
Choroid Plexus Calcification with Mental Retardation |
0 |
 |
Chromosome 18 Pericentric Inversion |
0 |
 |
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB |
26 |
 |
Chromosome Xq28 Duplication Syndrome |
21 |
 |
Chudley-Rozdilsky Syndrome |
0 |
 |
Cochlear Deafness with Myopia and Intellectual Impairment |
0 |
 |
Coffin Syndrome 1 |
0 |
 |
Cohen syndrome |
36 |
 |
Cohen-Gibson Syndrome |
1 |
 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
0 |
 |
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy |
0 |
 |
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation |
0 |
 |
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome |
0 |
 |
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation |
0 |
 |
Congenital Muscular Dystrophy plus Mental Retardation |
0 |
 |
Cornelia de Lange syndrome + |
43 |
 |
Cortical Blindness, Retardation, and Postaxial Polydactyly |
0 |
 |
Craniofaciofrontodigital Syndrome |
0 |
 |
Craniosynostosis Mental Retardation Clefting Syndrome |
0 |
 |
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig |
0 |
 |
Cree Mental Retardation Syndrome |
0 |
 |
Cri-du-Chat syndrome + |
19 |
 |
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies |
0 |
 |
Curatolo Cilio Pessagno Syndrome |
0 |
 |
Cutis Verticis Gyrata and Mental Deficiency |
0 |
 |
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality |
0 |
 |
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY |
1 |
 |
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES |
2 |
 |
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES |
1 |
 |
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES |
1 |
 |
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES |
2 |
 |
DOORS syndrome |
3 |
 |
Davis Lafer Syndrome |
0 |
 |
De Sanctis-Cacchione syndrome |
0 |
 |
Deafness, Congenital Onychodystrophy, Recessive Form |
0 |
 |
Devriendt syndrome |
0 |
 |
Diets-Jongmans Syndrome |
1 |
 |
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation |
0 |
 |
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies |
0 |
 |
Distal Transverse Limb Defects with Mental Retardation and Spasticity |
0 |
 |
Down syndrome + |
56 |
 |
Dubowitz syndrome |
0 |
 |
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave |
0 |
 |
Duker Weiss Siber syndrome |
0 |
 |
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone |
0 |
 |
Dyggve-Melchior-Clausen disease + |
2 |
 |
Dyskinesias, Seizures, and Intellectual Developmental Disorder |
1 |
 |
Dysmyelination with Jaundice |
0 |
 |
EAST syndrome |
4 |
 |
Ectodermal Dysplasia, Mental Retardation, Syndactyly |
0 |
 |
Elliott Ludman Teebi Syndrome |
0 |
 |
Emanuel Syndrome |
0 |
 |
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration |
0 |
 |
Epilepsy Telangiectasia |
0 |
 |
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME |
1 |
 |
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation |
0 |
 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome |
1 |
 |
Faciocardiomelic Syndrome |
0 |
 |
Fallot Complex with Severe Mental and Growth Retardation |
0 |
 |
Familial Convulsive Disorder with Prenatal or Early Onset |
0 |
 |
Feingold Trainer Syndrome |
0 |
 |
Feingold syndrome + |
2 |
 |
Filippi syndrome |
2 |
 |
Fine-Lubinsky Syndrome |
3 |
 |
Fitzsimmons Walson Mellor Syndrome |
0 |
 |
Fitzsimmons-McLachlan-Gilbert syndrome |
0 |
 |
Focal Epilepsy with Speech Disorder and with or without Mental Retardation |
2 |
 |
Fountain Syndrome |
0 |
 |
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES |
1 |
 |
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY |
1 |
 |
Garret Tripp Syndrome |
0 |
 |
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones |
0 |
 |
Genitopatellar Syndrome |
18 |
 |
Gillespie syndrome |
2 |
 |
Gingival Fibromatosis with Hypertrichosis and Mental Retardation |
0 |
 |
Goniodysgenesis-Mental Retardation-Short Stature Syndrome |
0 |
 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy |
0 |
 |
Growth Mental Deficiency Syndrome of Myhre |
2 |
 |
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia |
0 |
 |
Gurrieri Sammito Bellussi Syndrome |
0 |
 |
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME |
1 |
 |
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY + |
2 |
 |
Hair Defect with Photosensitivity and Mental Retardation |
0 |
 |
Hall Riggs Mental Retardation Syndrome |
0 |
 |
Hamamy Syndrome |
1 |
 |
Harel-Yoon syndrome |
3 |
 |
Harrod Doman Keele Syndrome |
0 |
 |
Haspeslagh Fryns Muelenaere Syndrome |
0 |
 |
Hittner Hirsch Kreh Syndrome |
4 |
 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate |
1 |
 |
Hooft Disease |
0 |
 |
Hordnes Engebretsen Knudtson syndrome |
0 |
 |
Hoxha-Aliu syndrome |
1 |
 |
Hoyeraal Hreidarsson Syndrome |
6 |
 |
Hunter-McAlpine Syndrome |
0 |
 |
Hydroxylysinuria |
0 |
 |
Hyperleucine-Isoleucinemia |
0 |
 |
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria |
0 |
 |
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly |
0 |
 |
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum |
0 |
 |
Hypospadias-Mental Retardation Syndrome |
0 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES |
2 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES |
2 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN |
3 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA |
2 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES |
1 |
 |
Ichthyosis and Male Hypogonadism |
0 |
 |
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment |
0 |
 |
Ichthyosis, Spastic Quadriplegia, and Mental Retardation |
1 |
 |
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin |
0 |
 |
Impaired intellectual development, anterior maxillary protrusion, and strabismus |
1 |
 |
Indolylacroyl Glycinuria with Mental Retardation |
0 |
 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development |
1 |
 |
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase |
0 |
 |
Infantile Hypotonia with Psychomotor Retardation + |
4 |
 |
Infantile Multisystem Neurologic Disease with Osseous Fragility |
0 |
 |
Intellectual Developmental Disorder with Autism and Dysmorphic Facies |
1 |
 |
Intellectual Developmental Disorder with Autism and Macrocephaly |
1 |
 |
Intellectual Developmental Disorder with Autism and Speech Delay |
1 |
 |
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies |
1 |
 |
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis |
2 |
 |
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies |
1 |
 |
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay |
2 |
 |
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies |
1 |
 |
Intellectual Developmental Disorder with Seizures and Language Delay |
1 |
 |
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy |
2 |
 |
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies |
5 |
 |
Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type |
2 |
 |
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis |
1 |
 |
Jagell Holmgren Hofer Syndrome |
0 |
 |
Johanson-Blizzard syndrome |
1 |
 |
Joubert Syndrome 27 |
1 |
 |
Joubert Syndrome 28 |
1 |
 |
Joubert syndrome 14 |
5 |
 |
Joubert syndrome 15 |
1 |
 |
Joubert syndrome 7 |
3 |
 |
Joubert syndrome 9 |
7 |
 |
KBG syndrome |
49 |
 |
KINSSHIP syndrome |
1 |
 |
KOHLSCHUTTER-TONZ SYNDROME-LIKE |
1 |
 |
Kahrizi syndrome |
1 |
 |
Kaler Garrity Stern Syndrome |
0 |
 |
Kapur Toriello Syndrome |
1 |
 |
Karandikar Maria Kamble Syndrome |
0 |
 |
Katsantoni Papadakou Lagoyanni Syndrome |
0 |
 |
Keppen-Lubinsky Syndrome |
1 |
 |
Khalifa Graham Syndrome |
0 |
 |
Kleefstra syndrome + |
109 |
 |
Koone Rizzo Elias Syndrome |
0 |
 |
Kosztolanyi Syndrome |
0 |
 |
Kozlowski Ouvrier Syndrome |
0 |
 |
Kozlowski Rafinski Klicharska Syndrome |
0 |
 |
Kozlowski-Krajewska Syndrome |
0 |
 |
Kuzniecky Andermann Syndrome |
0 |
 |
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME |
1 |
 |
Lambert Syndrome |
0 |
 |
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation |
0 |
 |
Lenz-Majewski hyperostotic dwarfism |
1 |
 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
0 |
 |
Li-Campeau Syndrome |
2 |
 |
Lowry Maclean syndrome |
0 |
 |
Lowry Wood Syndrome |
1 |
 |
Lubani Al Saleh Teebi Syndrome |
0 |
 |
Luscan-Lumish Syndrome |
4 |
 |
Lynch Lee Murday syndrome |
0 |
 |
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT |
1 |
 |
MASA syndrome |
2 |
 |
MEND syndrome |
1 |
 |
MOMES Syndrome |
0 |
 |
MORM Syndrome |
1 |
 |
Macrosomia Obesity Macrocephaly Ocular Abnormalities |
0 |
 |
Male Hypogonadism with Mental Retardation and Skeletal Anomalies |
0 |
 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
0 |
 |
Mandibulofacial Dysostosis with Mental Deficiency |
1 |
 |
Marfanoid Mental Retardation Syndrome, Autosomal |
97 |
 |
Marinesco-Sjogren syndrome |
2 |
 |
McDonough Syndrome |
0 |
 |
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability |
1 |
 |
Menke-Hennekam Syndrome + |
2 |
 |
Mental Retardation Associated with Psoriasis |
0 |
 |
Mental Retardation Mietens Weber Type |
0 |
 |
Mental Retardation Smith Fineman Myers Type |
0 |
 |
Mental Retardation Spasticity Ectrodactyly |
0 |
 |
Mental Retardation Syndrome, Belgian Type |
0 |
 |
Mental Retardation Wolff Type |
1 |
 |
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects |
1 |
 |
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature |
0 |
 |
Mental Retardation with Spastic Paraplegia |
0 |
 |
Mental Retardation, Buenos Aires Type |
0 |
 |
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities |
0 |
 |
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block |
0 |
 |
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism |
0 |
 |
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face |
0 |
 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism |
0 |
 |
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy |
0 |
 |
Mental and Growth Retardation with Amblyopia |
0 |
 |
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness |
0 |
 |
Methionine Malabsorption Syndrome |
0 |
 |
Microcephalic Primordial Dwarfism Toriello Type |
0 |
 |
Microcephaly Deafness Syndrome |
0 |
 |
Microcephaly Seizures Mental Retardation Heart Disorders |
0 |
 |
Microcephaly Sparse Hair Mental Retardation Seizures |
0 |
 |
Microcephaly with Cervical Spine Fusion Anomalies |
0 |
 |
Microcephaly with Mental Retardation and Digital Anomalies |
1 |
 |
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate |
0 |
 |
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation |
0 |
 |
Microcephaly, Macrotia, and Mental Retardation |
0 |
 |
Microphthalmia and Mental Deficiency |
0 |
 |
Mirhosseini-Holmes-Walton Syndrome |
0 |
 |
Mollica-Pavone-Antener Syndrome |
0 |
 |
Morillo-Cucci Passarge Syndrome |
0 |
 |
Mowat-Wilson syndrome |
10 |
 |
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability |
3 |
 |
Myotonia with Skeletal Abnormalities and Mental Retardation |
0 |
 |
N syndrome |
0 |
 |
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY |
1 |
 |
NF1 Microduplication Syndrome |
0 |
 |
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification |
0 |
 |
Neuhauser Syndrome |
0 |
 |
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia |
1 |
 |
Neurofaciodigitorenal Syndrome |
0 |
 |
Nicolaides-Baraitser syndrome |
4 |
 |
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME |
1 |
 |
Ohdo syndrome + |
4 |
 |
Okur-Chung Neurodevelopmental Syndrome |
1 |
 |
Oliver Syndrome |
0 |
 |
Oliver-McFarlane syndrome |
1 |
 |
Onychotrichodysplasia and Neutropenia |
0 |
 |
Osteolysis Syndrome, Recessive |
0 |
 |
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME |
2 |
 |
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts |
1 |
 |
Palant Cleft Palate Syndrome |
0 |
 |
Pallister W Syndrome |
0 |
 |
Parkinson's disease 25 |
1 |
 |
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV |
0 |
 |
Pashayan Syndrome |
0 |
 |
Patella Hypoplasia Mental Retardation |
0 |
 |
Pavone Fiumara Rizzo Syndrome |
0 |
 |
Perniola Krajewska Carnevale Syndrome |
0 |
 |
Pfeiffer Kapferer Syndrome |
0 |
 |
Pfeiffer Mayer Syndrome |
0 |
 |
Pfeiffer Tietze Welte Syndrome |
0 |
 |
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation |
0 |
 |
Pilotto Syndrome |
0 |
 |
Pitt-Hopkins syndrome + |
15 |
 |
Piussan Lenaerts Mathieu syndrome |
0 |
 |
Prader-Willi syndrome + |
18 |
 |
Primrose Syndrome |
1 |
 |
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency |
0 |
 |
Progressive Vitiligo with Mental Retardation and Urethral Duplication |
0 |
 |
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation |
0 |
 |
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation |
1 |
 |
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness |
0 |
 |
Pseudoaminopterin Syndrome |
0 |
 |
Pseudouridinuria and Mental Defect |
0 |
 |
Qazi Markouizos syndrome |
0 |
 |
RADIO-TARTAGLIA SYNDROME |
1 |
 |
RAUCH-STEINDL SYNDROME |
1 |
 |
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED |
18 |
 |
Radioulnar Synostosis Retinal Pigment Abnormalities |
0 |
 |
Rahman Syndrome |
1 |
 |
Ramon Syndrome |
0 |
 |
Ramos Arroyo Clark Syndrome |
0 |
 |
Reardon Wilson Cavanagh Syndrome |
0 |
 |
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism |
0 |
 |
Richards-Rundle Syndrome |
0 |
 |
Ritscher-Schinzel syndrome 2 |
1 |
 |
Robin Sequence with Distinctive Facial Appearance and Brachydactyly |
0 |
 |
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant |
0 |
 |
Rubinstein-Taybi syndrome + |
87 |
 |
Rud Syndrome |
0 |
 |
Ruzicka Goerz Anton syndrome |
0 |
 |
SATB2-associated syndrome |
2 |
 |
SCARF Syndrome |
0 |
 |
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES |
1 |
 |
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY |
3 |
 |
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS |
1 |
 |
Sammartino De Crecchio Syndrome |
0 |
 |
Sao Paulo MCA/MR Syndrome |
0 |
 |
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development |
1 |
 |
Schaaf-Yang syndrome |
3 |
 |
Schinzel Giedion syndrome |
1 |
 |
Schofer Beetz Bohl Syndrome |
0 |
 |
Scholte Syndrome |
0 |
 |
Schrander-Stumpel Theunissen Hulsmans Syndrome |
0 |
 |
Sclerosing Bone Dysplasia, Mental Retardation |
0 |
 |
Seckel Syndrome 3 |
0 |
 |
Seckel syndrome 4 |
2 |
 |
Seemanova Lesny Syndrome |
0 |
 |
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration |
0 |
 |
Shaheen Syndrome |
1 |
 |
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures |
1 |
 |
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting |
0 |
 |
Simpson-Golabi-Behmel syndrome type 1 |
5 |
 |
Singh Chhaparwal Dhanda Syndrome |
0 |
 |
Skeletal Defects, Genital Hypoplasia, And Mental Retardation |
1 |
 |
Sketetal Dysplasia Coarse Facies Mental Retardation |
2 |
 |
Smith-Kingsmore Syndrome |
3 |
 |
Snijders Blok-Campeau Syndrome |
2 |
 |
Spastic Diplegia Infantile Type |
0 |
 |
Spastic Paraplegia, Ataxia, and Mental Retardation |
0 |
 |
Spastic Paraplegia, Epilepsy, Mental Retardation |
0 |
 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy |
0 |
 |
Spastic Paresis, Glaucoma, and Mental Retardation |
0 |
 |
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation |
0 |
 |
Spinal Muscular Atrophy with Mental Retardation |
0 |
 |
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality |
0 |
 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
1 |
 |
Stevenson-Carey Syndrome |
0 |
 |
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly |
1 |
 |
Sucrosuria, Hiatus Hernia and Mental Retardation |
0 |
 |
Supernumerary Der(22)t(8;22) Syndrome |
0 |
 |
THAUVIN-ROBINET-FAIVRE SYNDROME |
1 |
 |
TIMES Syndrome |
1 |
 |
Takenouchi-Kosaki Syndrome |
1 |
 |
Tamari Goodman Syndrome |
0 |
 |
Temple-Baraitser syndrome |
1 |
 |
Tenorio Syndrome |
1 |
 |
Tetrasomy X |
0 |
 |
Tolchin-Le Caignec Syndrome |
1 |
 |
Tonoki Syndrome |
0 |
 |
Trichodental Syndrome |
0 |
 |
Tryptophanuria with Dwarfism |
0 |
 |
Tsukahara Syndrome |
1 |
 |
Ulnar Hypoplasia with Mental Retardation |
0 |
 |
Upton Young Syndrome |
0 |
 |
VERVERI-BRADY SYNDROME |
1 |
 |
Van Bogaert-Hozay Syndrome |
0 |
 |
Van Den Bosch Syndrome |
0 |
 |
Van Maldergem syndrome + |
3 |
 |
Vasquez Hurst Sotos Syndrome |
0 |
 |
Verloes Gillerot Fryns Syndrome |
0 |
 |
Viljoen Kallis Voges Syndrome |
0 |
 |
Vissers-Bodmer syndrome |
2 |
 |
Volcke Soekarman Syndrome |
0 |
 |
WAGR syndrome + |
3 |
 |
Waisman syndrome |
2 |
 |
Walker Dyson Syndrome |
0 |
 |
Warburg micro syndrome + |
4 |
 |
Warburton Anyane Yeboa Syndrome |
1 |
 |
Wiedemann Grosse Dibbern Syndrome |
0 |
 |
Wiedemann Oldigs Oppermann Syndrome |
0 |
 |
Wiedemann-Steiner syndrome |
4 |
 |
Williams-Beuren syndrome + |
31 |
 |
Winship Viljoen Leary Syndrome |
0 |
 |
Woodhouse-Sakati syndrome |
2 |
 |
Worster-Drought Syndrome |
1 |
 |
X-Linked Intellectual Developmental Disorders + |
815 |
 |
Yoon-Bellen neurodevelopmental syndrome |
1 |
 |
Young Hughes Syndrome |
0 |
 |
ZTTK syndrome |
26 |
 |
Zazam Sheriff Phillips Syndrome |
0 |
 |
Zechi-Ceide Syndrome |
0 |
 |
Zerres Rietschel Majewski Syndrome |
0 |
 |
acrodysostosis + |
4 |
 |
alacrima, achalasia, and impaired intellectual development syndrome |
50 |
 |
alopecia, neurologic defects, and endocrinopathy syndrome |
1 |
 |
alopecia-mental retardation syndrome + |
3 |
 |
alpha thalassemia-intellectual disability syndrome type 1 |
0 |
 |
autosomal dominant intellectual developmental disorder + |
436 |
 |
autosomal recessive cutis laxa type III + |
2 |
 |
autosomal recessive intellectual developmental disorder + |
298 |
 |
autosomal recessive limb-girdle muscular dystrophy type 2P |
24 |
 |
autosomal recessive spinocerebellar ataxia 12 |
2 |
 |
bilateral perisylvian polymicrogyria + |
9 |
 |
blepharophimosis-impaired intellectual development syndrome |
1 |
 |
brachycephaly, trichomegaly, and developmental delay |
1 |
 |
branched-chain keto acid dehydrogenase kinase deficiency |
39 |
 |
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome + |
4 |
 |
cerebellofaciodental syndrome |
1 |
 |
cerebral cavernous malformation 2 |
2 |
 |
cerebral cavernous malformation 3 |
2 |
 |
cerebrocostomandibular syndrome |
1 |
 |
cerebrooculofacioskeletal syndrome 2 |
2 |
 |
cerebrooculofacioskeletal syndrome 4 |
2 |
 |
chromosome 13q14 deletion syndrome |
76 |
 |
chromosome 15q11.2 deletion syndrome |
30 |
 |
chromosome 15q13.3 microdeletion syndrome |
6 |
 |
chromosome 15q24 deletion syndrome |
10 |
 |
chromosome 15q26-qter deletion syndrome |
14 |
 |
chromosome 16p11.2 deletion syndrome, 593-kb |
40 |
 |
chromosome 17p13.1 deletion syndrome |
0 |
 |
chromosome 17q11.2 deletion syndrome |
1 |
 |
chromosome 1q21.1 duplication syndrome |
8 |
 |
chromosome 2q31.2 deletion syndrome |
0 |
 |
chromosome 3q29 microdeletion syndrome |
22 |
 |
chromosome 8q21.11 deletion syndrome |
0 |
 |
cleft lip-palate-ectodermal dysplasia syndrome |
1 |
 |
congenital disorder of deglycosylation 2 |
2 |
 |
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |
1 |
 |
congenital muscular dystrophy with cataracts and intellectual disability |
1 |
 |
corpus callosum agenesis-abnormal genitalia syndrome |
2 |
 |
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome + |
2 |
 |
deafness-dystonia-optic neuronopathy syndrome |
2 |
 |
developmental and epileptic encephalopathy 9 |
30 |
 |
dicarboxylic aminoaciduria |
1 |
 |
frontonasal dysplasia 3 |
1 |
 |
hereditary spastic paraplegia 11 |
10 |
 |
hereditary spastic paraplegia 14 |
0 |
 |
hereditary spastic paraplegia 18 |
1 |
 |
hereditary spastic paraplegia 32 |
0 |
 |
hypermethioninemia due to adenosine kinase deficiency |
1 |
 |
hypoparathyroidism-retardation-dysmorphism syndrome |
2 |
 |
hypotonia-cystinuria syndrome |
4 |
 |
intellectual developmental disorder with cardiac arrhythmia |
1 |
 |
intellectual developmental disorder with short stature and behavioral abnormalities |
1 |
 |
intellectual disability and myopathy syndrome |
1 |
 |
isolated cleft palate |
4 |
 |
lissencephaly 3 + |
3 |
 |
lissencephaly 4 |
2 |
 |
mandibulofacial dysostosis, Guion-Almeida type |
1 |
 |
megalencephalic leukoencephalopathy with subcortical cysts 2B |
1 |
 |
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
1 |
 |
multiple benign circumferential skin creases on limbs + |
2 |
 |
multiple congenital anomalies-hypotonia-seizures syndrome 3 |
1 |
 |
muscular dystrophy-dystroglycanopathy type B1 |
6 |
 |
muscular dystrophy-dystroglycanopathy type B14 |
2 |
 |
muscular dystrophy-dystroglycanopathy type B2 |
1 |
 |
muscular dystrophy-dystroglycanopathy type B3 |
2 |
 |
muscular dystrophy-dystroglycanopathy type B6 |
14 |
 |
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities |
19 |
 |
non-syndromic intellectual disability + |
56 |
 |
nonprogressive cerebellar ataxia with mental retardation |
17 |
 |
optic atrophy 10 |
1 |
 |
parastremmatic dwarfism |
1 |
 |
photosensitive trichothiodystrophy 1 |
3 |
 |
spastic ataxia + |
82 |
 |
spondyloepimetaphyseal dysplasia, Genevieve-type |
2 |
 |
spondyloepiphyseal dysplasia tarda with intellectual disability |
0 |
 |
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability |
0 |
 |
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis |
1 |
 |
syndromic intellectual disability + |
761 |
 |
temtamy preaxial brachydactyly syndrome |
1 |
 |
uveal coloboma-cleft lip and palate-intellectual disability |
1 |
 |
Path 2 |
disease |
15417 |
 |
disease of anatomical entity |
15080 |
 |
nervous system disease |
13230 |
 |
central nervous system disease |
11819 |
 |
brain disease |
11089 |
 |
disease of mental health |
7979 |
 |
developmental disorder of mental health |
5453 |
 |
specific developmental disorder |
4482 |
 |
intellectual disability |
4287 |
 |
AGAT deficiency |
17 |
 |
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency |
1 |
 |
AMED syndrome |
2 |
 |
AMME complex |
0 |
 |
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION |
1 |
 |
Absent Eyebrows and Eyelashes with Mental Retardation |
0 |
 |
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations |
0 |
 |
Akesson Syndrome |
0 |
 |
Al Gazali Aziz Salem Syndrome |
0 |
 |
Al-Raqad Syndrome |
1 |
 |
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus |
0 |
 |
Alazami Syndrome |
2 |
 |
Alazami-Yuan Syndrome |
3 |
 |
Alopecia Contractures Dwarfism Mental Retardation |
0 |
 |
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality |
0 |
 |
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan |
0 |
 |
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis |
0 |
 |
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation |
0 |
 |
Amyotrophic Dystonic Paraplegia |
0 |
 |
Ansell Bywaters Elderking Syndrome |
0 |
 |
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation |
0 |
 |
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation |
0 |
 |
Arthrogryposis, Impaired Intellectual Development, and Seizures |
3 |
 |
Au-Kline Syndrome |
5 |
 |
Aughton Syndrome |
0 |
 |
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation |
0 |
 |
Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development |
2 |
 |
Ayme-Gripp syndrome |
1 |
 |
BDV Syndrome |
1 |
 |
BURATTI-HAREL SYNDROME |
2 |
 |
Baraitser Rodeck Garner syndrome |
0 |
 |
Baraitser-Winter syndrome + |
13 |
 |
Basel-Vanagaite-Smirin-Yosef syndrome |
1 |
 |
Battaglia Neri Syndrome |
0 |
 |
Beaulieu-Boycott-Innes Syndrome |
2 |
 |
Behr syndrome |
1 |
 |
Bellini Chiumello Rimoldi Syndrome |
0 |
 |
Biemond Syndrome II |
0 |
 |
Birk-Barel syndrome |
2 |
 |
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation |
0 |
 |
Bohring Syndrome |
2 |
 |
Boudhina Yedes Khiari syndrome |
0 |
 |
Bresheck/Bresek Syndrome |
0 |
 |
Brunner syndrome |
3 |
 |
Bullous Dystrophy, Hereditary Macular Type |
0 |
 |
C syndrome |
1 |
 |
CAHMR Syndrome |
0 |
 |
CATIFA Syndrome |
1 |
 |
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM |
1 |
 |
CHIME syndrome |
1 |
 |
Camera Marugo Cohen Syndrome |
0 |
 |
Cantalamessa Baldini Ambrosi Syndrome |
0 |
 |
Cantu Sanchez-Corona Fragoso Syndrome |
0 |
 |
Cartwright Nelson Fryns Syndrome |
0 |
 |
Cataracts, Ataxia, Short Stature, and Mental Retardation |
0 |
 |
Cephalin Lipidosis |
0 |
 |
Cerebral Visual Impairment and Intellectual Disability |
18 |
 |
Cerebrooculonasal Syndrome |
0 |
 |
Choroid Plexus Calcification with Mental Retardation |
0 |
 |
Chromosome 18 Pericentric Inversion |
0 |
 |
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB |
26 |
 |
Chromosome Xq28 Duplication Syndrome |
21 |
 |
Chudley-Rozdilsky Syndrome |
0 |
 |
Cochlear Deafness with Myopia and Intellectual Impairment |
0 |
 |
Coffin Syndrome 1 |
0 |
 |
Cohen syndrome |
36 |
 |
Cohen-Gibson Syndrome |
1 |
 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
0 |
 |
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy |
0 |
 |
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation |
0 |
 |
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome |
0 |
 |
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation |
0 |
 |
Congenital Muscular Dystrophy plus Mental Retardation |
0 |
 |
Cornelia de Lange syndrome + |
43 |
 |
Cortical Blindness, Retardation, and Postaxial Polydactyly |
0 |
 |
Craniofaciofrontodigital Syndrome |
0 |
 |
Craniosynostosis Mental Retardation Clefting Syndrome |
0 |
 |
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig |
0 |
 |
Cree Mental Retardation Syndrome |
0 |
 |
Cri-du-Chat syndrome + |
19 |
 |
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies |
0 |
 |
Curatolo Cilio Pessagno Syndrome |
0 |
 |
Cutis Verticis Gyrata and Mental Deficiency |
0 |
 |
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality |
0 |
 |
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY |
1 |
 |
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES |
2 |
 |
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES |
1 |
 |
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES |
1 |
 |
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES |
2 |
 |
DOORS syndrome |
3 |
 |
Davis Lafer Syndrome |
0 |
 |
De Sanctis-Cacchione syndrome |
0 |
 |
Deafness, Congenital Onychodystrophy, Recessive Form |
0 |
 |
Devriendt syndrome |
0 |
 |
Diets-Jongmans Syndrome |
1 |
 |
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation |
0 |
 |
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies |
0 |
 |
Distal Transverse Limb Defects with Mental Retardation and Spasticity |
0 |
 |
Down syndrome + |
56 |
 |
Dubowitz syndrome |
0 |
 |
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave |
0 |
 |
Duker Weiss Siber syndrome |
0 |
 |
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone |
0 |
 |
Dyggve-Melchior-Clausen disease + |
2 |
 |
Dyskinesias, Seizures, and Intellectual Developmental Disorder |
1 |
 |
Dysmyelination with Jaundice |
0 |
 |
EAST syndrome |
4 |
 |
Ectodermal Dysplasia, Mental Retardation, Syndactyly |
0 |
 |
Elliott Ludman Teebi Syndrome |
0 |
 |
Emanuel Syndrome |
0 |
 |
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration |
0 |
 |
Epilepsy Telangiectasia |
0 |
 |
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME |
1 |
 |
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation |
0 |
 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome |
1 |
 |
Faciocardiomelic Syndrome |
0 |
 |
Fallot Complex with Severe Mental and Growth Retardation |
0 |
 |
Familial Convulsive Disorder with Prenatal or Early Onset |
0 |
 |
Feingold Trainer Syndrome |
0 |
 |
Feingold syndrome + |
2 |
 |
Filippi syndrome |
2 |
 |
Fine-Lubinsky Syndrome |
3 |
 |
Fitzsimmons Walson Mellor Syndrome |
0 |
 |
Fitzsimmons-McLachlan-Gilbert syndrome |
0 |
 |
Focal Epilepsy with Speech Disorder and with or without Mental Retardation |
2 |
 |
Fountain Syndrome |
0 |
 |
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES |
1 |
 |
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY |
1 |
 |
Garret Tripp Syndrome |
0 |
 |
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones |
0 |
 |
Genitopatellar Syndrome |
18 |
 |
Gillespie syndrome |
2 |
 |
Gingival Fibromatosis with Hypertrichosis and Mental Retardation |
0 |
 |
Goniodysgenesis-Mental Retardation-Short Stature Syndrome |
0 |
 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy |
0 |
 |
Growth Mental Deficiency Syndrome of Myhre |
2 |
 |
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia |
0 |
 |
Gurrieri Sammito Bellussi Syndrome |
0 |
 |
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME |
1 |
 |
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY + |
2 |
 |
Hair Defect with Photosensitivity and Mental Retardation |
0 |
 |
Hall Riggs Mental Retardation Syndrome |
0 |
 |
Hamamy Syndrome |
1 |
 |
Harel-Yoon syndrome |
3 |
 |
Harrod Doman Keele Syndrome |
0 |
 |
Haspeslagh Fryns Muelenaere Syndrome |
0 |
 |
Hittner Hirsch Kreh Syndrome |
4 |
 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate |
1 |
 |
Hooft Disease |
0 |
 |
Hordnes Engebretsen Knudtson syndrome |
0 |
 |
Hoxha-Aliu syndrome |
1 |
 |
Hoyeraal Hreidarsson Syndrome |
6 |
 |
Hunter-McAlpine Syndrome |
0 |
 |
Hydroxylysinuria |
0 |
 |
Hyperleucine-Isoleucinemia |
0 |
 |
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria |
0 |
 |
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly |
0 |
 |
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum |
0 |
 |
Hypospadias-Mental Retardation Syndrome |
0 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES |
2 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES |
2 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN |
3 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA |
2 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES |
1 |
 |
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES |
1 |
 |
Ichthyosis and Male Hypogonadism |
0 |
 |
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment |
0 |
 |
Ichthyosis, Spastic Quadriplegia, and Mental Retardation |
1 |
 |
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin |
0 |
 |
Impaired intellectual development, anterior maxillary protrusion, and strabismus |
1 |
 |
Indolylacroyl Glycinuria with Mental Retardation |
0 |
 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development |
1 |
 |
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase |
0 |
 |
Infantile Hypotonia with Psychomotor Retardation + |
4 |
 |
Infantile Multisystem Neurologic Disease with Osseous Fragility |
0 |
 |
Intellectual Developmental Disorder with Autism and Dysmorphic Facies |
1 |
 |
Intellectual Developmental Disorder with Autism and Macrocephaly |
1 |
 |
Intellectual Developmental Disorder with Autism and Speech Delay |
1 |
 |
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies |
1 |
 |
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis |
2 |
 |
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies |
1 |
 |
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay |
2 |
 |
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies |
1 |
 |
Intellectual Developmental Disorder with Seizures and Language Delay |
1 |
 |
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy |
2 |
 |
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies |
5 |
 |
Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type |
2 |
 |
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis |
1 |
 |
Jagell Holmgren Hofer Syndrome |
0 |
 |
Johanson-Blizzard syndrome |
1 |
 |
Joubert Syndrome 27 |
1 |
 |
Joubert Syndrome 28 |
1 |
 |
Joubert syndrome 14 |
5 |
 |
Joubert syndrome 15 |
1 |
 |
Joubert syndrome 7 |
3 |
 |
Joubert syndrome 9 |
7 |
 |
KBG syndrome |
49 |
 |
KINSSHIP syndrome |
1 |
 |
KOHLSCHUTTER-TONZ SYNDROME-LIKE |
1 |
 |
Kahrizi syndrome |
1 |
 |
Kaler Garrity Stern Syndrome |
0 |
 |
Kapur Toriello Syndrome |
1 |
 |
Karandikar Maria Kamble Syndrome |
0 |
 |
Katsantoni Papadakou Lagoyanni Syndrome |
0 |
 |
Keppen-Lubinsky Syndrome |
1 |
 |
Khalifa Graham Syndrome |
0 |
 |
Kleefstra syndrome + |
109 |
 |
Koone Rizzo Elias Syndrome |
0 |
 |
Kosztolanyi Syndrome |
0 |
 |
Kozlowski Ouvrier Syndrome |
0 |
 |
Kozlowski Rafinski Klicharska Syndrome |
0 |
 |
Kozlowski-Krajewska Syndrome |
0 |
 |
Kuzniecky Andermann Syndrome |
0 |
 |
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME |
1 |
 |
Lambert Syndrome |
0 |
 |
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation |
0 |
 |
Lenz-Majewski hyperostotic dwarfism |
1 |
 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
0 |
 |
Li-Campeau Syndrome |
2 |
 |
Lowry Maclean syndrome |
0 |
 |
Lowry Wood Syndrome |
1 |
 |
Lubani Al Saleh Teebi Syndrome |
0 |
 |
Luscan-Lumish Syndrome |
4 |
 |
Lynch Lee Murday syndrome |
0 |
 |
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT |
1 |
 |
MASA syndrome |
2 |
 |
MEND syndrome |
1 |
 |
MOMES Syndrome |
0 |
 |
MORM Syndrome |
1 |
 |
Macrosomia Obesity Macrocephaly Ocular Abnormalities |
0 |
 |
Male Hypogonadism with Mental Retardation and Skeletal Anomalies |
0 |
 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
0 |
 |
Mandibulofacial Dysostosis with Mental Deficiency |
1 |
 |
Marfanoid Mental Retardation Syndrome, Autosomal |
97 |
 |
Marinesco-Sjogren syndrome |
2 |
 |
McDonough Syndrome |
0 |
 |
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability |
1 |
 |
Menke-Hennekam Syndrome + |
2 |
 |
Mental Retardation Associated with Psoriasis |
0 |
 |
Mental Retardation Mietens Weber Type |
0 |
 |
Mental Retardation Smith Fineman Myers Type |
0 |
 |
Mental Retardation Spasticity Ectrodactyly |
0 |
 |
Mental Retardation Syndrome, Belgian Type |
0 |
 |
Mental Retardation Wolff Type |
1 |
 |
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects |
1 |
 |
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature |
0 |
 |
Mental Retardation with Spastic Paraplegia |
0 |
 |
Mental Retardation, Buenos Aires Type |
0 |
 |
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities |
0 |
 |
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block |
0 |
 |
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism |
0 |
 |
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face |
0 |
 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism |
0 |
 |
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy |
0 |
 |
Mental and Growth Retardation with Amblyopia |
0 |
 |
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness |
0 |
 |
Methionine Malabsorption Syndrome |
0 |
 |
Microcephalic Primordial Dwarfism Toriello Type |
0 |
 |
Microcephaly Deafness Syndrome |
0 |
 |
Microcephaly Seizures Mental Retardation Heart Disorders |
0 |
 |
Microcephaly Sparse Hair Mental Retardation Seizures |
0 |
 |
Microcephaly with Cervical Spine Fusion Anomalies |
0 |
 |
Microcephaly with Mental Retardation and Digital Anomalies |
1 |
 |
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate |
0 |
 |
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation |
0 |
 |
Microcephaly, Macrotia, and Mental Retardation |
0 |
 |
Microphthalmia and Mental Deficiency |
0 |
 |
Mirhosseini-Holmes-Walton Syndrome |
0 |
 |
Mollica-Pavone-Antener Syndrome |
0 |
 |
Morillo-Cucci Passarge Syndrome |
0 |
 |
Mowat-Wilson syndrome |
10 |
 |
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability |
3 |
 |
Myotonia with Skeletal Abnormalities and Mental Retardation |
0 |
 |
N syndrome |
0 |
 |
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY |
1 |
 |
NF1 Microduplication Syndrome |
0 |
 |
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification |
0 |
 |
Neuhauser Syndrome |
0 |
 |
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia |
1 |
 |
Neurofaciodigitorenal Syndrome |
0 |
 |
Nicolaides-Baraitser syndrome |
4 |
 |
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME |
1 |
 |
Ohdo syndrome + |
4 |
 |
Okur-Chung Neurodevelopmental Syndrome |
1 |
 |
Oliver Syndrome |
0 |
 |
Oliver-McFarlane syndrome |
1 |
 |
Onychotrichodysplasia and Neutropenia |
0 |
 |
Osteolysis Syndrome, Recessive |
0 |
 |
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME |
2 |
 |
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts |
1 |
 |
Palant Cleft Palate Syndrome |
0 |
 |
Pallister W Syndrome |
0 |
 |
Parkinson's disease 25 |
1 |
 |
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV |
0 |
 |
Pashayan Syndrome |
0 |
 |
Patella Hypoplasia Mental Retardation |
0 |
 |
Pavone Fiumara Rizzo Syndrome |
0 |
 |
Perniola Krajewska Carnevale Syndrome |
0 |
 |
Pfeiffer Kapferer Syndrome |
0 |
 |
Pfeiffer Mayer Syndrome |
0 |
 |
Pfeiffer Tietze Welte Syndrome |
0 |
 |
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation |
0 |
 |
Pilotto Syndrome |
0 |
 |
Pitt-Hopkins syndrome + |
15 |
 |
Piussan Lenaerts Mathieu syndrome |
0 |
 |
Prader-Willi syndrome + |
18 |
 |
Primrose Syndrome |
1 |
 |
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency |
0 |
 |
Progressive Vitiligo with Mental Retardation and Urethral Duplication |
0 |
 |
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation |
0 |
 |
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation |
1 |
 |
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness |
0 |
 |
Pseudoaminopterin Syndrome |
0 |
 |
Pseudouridinuria and Mental Defect |
0 |
 |
Qazi Markouizos syndrome |
0 |
 |
RADIO-TARTAGLIA SYNDROME |
1 |
 |
RAUCH-STEINDL SYNDROME |
1 |
 |
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED |
18 |
 |
Radioulnar Synostosis Retinal Pigment Abnormalities |
0 |
 |
Rahman Syndrome |
1 |
 |
Ramon Syndrome |
0 |
 |
Ramos Arroyo Clark Syndrome |
0 |
 |
Reardon Wilson Cavanagh Syndrome |
0 |
 |
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism |
0 |
 |
Richards-Rundle Syndrome |
0 |
 |
Ritscher-Schinzel syndrome 2 |
1 |
 |
Robin Sequence with Distinctive Facial Appearance and Brachydactyly |
0 |
 |
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant |
0 |
 |
Rubinstein-Taybi syndrome + |
87 |
 |
Rud Syndrome |
0 |
 |
Ruzicka Goerz Anton syndrome |
0 |
 |
SATB2-associated syndrome |
2 |
 |
SCARF Syndrome |
0 |
 |
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES |
1 |
 |
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY |
3 |
 |
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS |
1 |
 |
Sammartino De Crecchio Syndrome |
0 |
 |
Sao Paulo MCA/MR Syndrome |
0 |
 |
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development |
1 |
 |
Schaaf-Yang syndrome |
3 |
 |
Schinzel Giedion syndrome |
1 |
 |
Schofer Beetz Bohl Syndrome |
0 |
 |
Scholte Syndrome |
0 |
 |
Schrander-Stumpel Theunissen Hulsmans Syndrome |
0 |
 |
Sclerosing Bone Dysplasia, Mental Retardation |
0 |
 |
Seckel Syndrome 3 |
0 |
 |
Seckel syndrome 4 |
2 |
 |
Seemanova Lesny Syndrome |
0 |
 |
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration |
0 |
 |
Shaheen Syndrome |
1 |
 |
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures |
1 |
 |
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting |
0 |
 |
Simpson-Golabi-Behmel syndrome type 1 |
5 |
 |
Singh Chhaparwal Dhanda Syndrome |
0 |
 |
Skeletal Defects, Genital Hypoplasia, And Mental Retardation |
1 |
 |
Sketetal Dysplasia Coarse Facies Mental Retardation |
2 |
 |
Smith-Kingsmore Syndrome |
3 |
 |
Snijders Blok-Campeau Syndrome |
2 |
 |
Spastic Diplegia Infantile Type |
0 |
 |
Spastic Paraplegia, Ataxia, and Mental Retardation |
0 |
 |
Spastic Paraplegia, Epilepsy, Mental Retardation |
0 |
 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy |
0 |
 |
Spastic Paresis, Glaucoma, and Mental Retardation |
0 |
 |
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation |
0 |
 |
Spinal Muscular Atrophy with Mental Retardation |
0 |
 |
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality |
0 |
 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
1 |
 |
Stevenson-Carey Syndrome |
0 |
 |
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly |
1 |
 |
Sucrosuria, Hiatus Hernia and Mental Retardation |
0 |
 |
Supernumerary Der(22)t(8;22) Syndrome |
0 |
 |
THAUVIN-ROBINET-FAIVRE SYNDROME |
1 |
 |
TIMES Syndrome |
1 |
 |
Takenouchi-Kosaki Syndrome |
1 |
 |
Tamari Goodman Syndrome |
0 |
 |
Temple-Baraitser syndrome |
1 |
 |
Tenorio Syndrome |
1 |
 |
Tetrasomy X |
0 |
 |
Tolchin-Le Caignec Syndrome |
1 |
 |
Tonoki Syndrome |
0 |
 |
Trichodental Syndrome |
0 |
 |
Tryptophanuria with Dwarfism |
0 |
 |
Tsukahara Syndrome |
1 |
 |
Ulnar Hypoplasia with Mental Retardation |
0 |
 |
Upton Young Syndrome |
0 |
 |
VERVERI-BRADY SYNDROME |
1 |
 |
Van Bogaert-Hozay Syndrome |
0 |
 |
Van Den Bosch Syndrome |
0 |
 |
Van Maldergem syndrome + |
3 |
 |
Vasquez Hurst Sotos Syndrome |
0 |
 |
Verloes Gillerot Fryns Syndrome |
0 |
 |
Viljoen Kallis Voges Syndrome |
0 |
 |
Vissers-Bodmer syndrome |
2 |
 |
Volcke Soekarman Syndrome |
0 |
 |
WAGR syndrome + |
3 |
 |
Waisman syndrome |
2 |
 |
Walker Dyson Syndrome |
0 |
 |
Warburg micro syndrome + |
4 |
 |
Warburton Anyane Yeboa Syndrome |
1 |
 |
Wiedemann Grosse Dibbern Syndrome |
0 |
 |
Wiedemann Oldigs Oppermann Syndrome |
0 |
 |
Wiedemann-Steiner syndrome |
4 |
 |
Williams-Beuren syndrome + |
31 |
 |
Winship Viljoen Leary Syndrome |
0 |
 |
Woodhouse-Sakati syndrome |
2 |
 |
Worster-Drought Syndrome |
1 |
 |
X-Linked Intellectual Developmental Disorders + |
815 |
 |
Yoon-Bellen neurodevelopmental syndrome |
1 |
 |
Young Hughes Syndrome |
0 |
 |
ZTTK syndrome |
26 |
 |
Zazam Sheriff Phillips Syndrome |
0 |
 |
Zechi-Ceide Syndrome |
0 |
 |
Zerres Rietschel Majewski Syndrome |
0 |
 |
acrodysostosis + |
4 |
 |
alacrima, achalasia, and impaired intellectual development syndrome |
50 |
 |
alopecia, neurologic defects, and endocrinopathy syndrome |
1 |
 |
alopecia-mental retardation syndrome + |
3 |
 |
alpha thalassemia-intellectual disability syndrome type 1 |
0 |
 |
autosomal dominant intellectual developmental disorder + |
436 |
 |
autosomal recessive cutis laxa type III + |
2 |
 |
autosomal recessive intellectual developmental disorder + |
298 |
 |
autosomal recessive limb-girdle muscular dystrophy type 2P |
24 |
 |
autosomal recessive spinocerebellar ataxia 12 |
2 |
 |
bilateral perisylvian polymicrogyria + |
9 |
 |
blepharophimosis-impaired intellectual development syndrome |
1 |
 |
brachycephaly, trichomegaly, and developmental delay |
1 |
 |
branched-chain keto acid dehydrogenase kinase deficiency |
39 |
 |
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome + |
4 |
 |
cerebellofaciodental syndrome |
1 |
 |
cerebral cavernous malformation 2 |
2 |
 |
cerebral cavernous malformation 3 |
2 |
 |
cerebrocostomandibular syndrome |
1 |
 |
cerebrooculofacioskeletal syndrome 2 |
2 |
 |
cerebrooculofacioskeletal syndrome 4 |
2 |
 |
chromosome 13q14 deletion syndrome |
76 |
 |
chromosome 15q11.2 deletion syndrome |
30 |
 |
chromosome 15q13.3 microdeletion syndrome |
6 |
 |
chromosome 15q24 deletion syndrome |
10 |
 |
chromosome 15q26-qter deletion syndrome |
14 |
 |
chromosome 16p11.2 deletion syndrome, 593-kb |
40 |
 |
chromosome 17p13.1 deletion syndrome |
0 |
 |
chromosome 17q11.2 deletion syndrome |
1 |
 |
chromosome 1q21.1 duplication syndrome |
8 |
 |
chromosome 2q31.2 deletion syndrome |
0 |
 |
chromosome 3q29 microdeletion syndrome |
22 |
 |
chromosome 8q21.11 deletion syndrome |
0 |
 |
cleft lip-palate-ectodermal dysplasia syndrome |
1 |
 |
congenital disorder of deglycosylation 2 |
2 |
 |
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |
1 |
 |
congenital muscular dystrophy with cataracts and intellectual disability |
1 |
 |
corpus callosum agenesis-abnormal genitalia syndrome |
2 |
 |
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome + |
2 |
 |
deafness-dystonia-optic neuronopathy syndrome |
2 |
 |
developmental and epileptic encephalopathy 9 |
30 |
 |
dicarboxylic aminoaciduria |
1 |
 |
frontonasal dysplasia 3 |
1 |
 |
hereditary spastic paraplegia 11 |
10 |
 |
hereditary spastic paraplegia 14 |
0 |
 |
hereditary spastic paraplegia 18 |
1 |
 |
hereditary spastic paraplegia 32 |
0 |
 |
hypermethioninemia due to adenosine kinase deficiency |
1 |
 |
hypoparathyroidism-retardation-dysmorphism syndrome |
2 |
 |
hypotonia-cystinuria syndrome |
4 |
 |
intellectual developmental disorder with cardiac arrhythmia |
1 |
 |
intellectual developmental disorder with short stature and behavioral abnormalities |
1 |
 |
intellectual disability and myopathy syndrome |
1 |
 |
isolated cleft palate |
4 |
 |
lissencephaly 3 + |
3 |
 |
lissencephaly 4 |
2 |
 |
mandibulofacial dysostosis, Guion-Almeida type |
1 |
 |
megalencephalic leukoencephalopathy with subcortical cysts 2B |
1 |
 |
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
1 |
 |
multiple benign circumferential skin creases on limbs + |
2 |
 |
multiple congenital anomalies-hypotonia-seizures syndrome 3 |
1 |
 |
muscular dystrophy-dystroglycanopathy type B1 |
6 |
 |
muscular dystrophy-dystroglycanopathy type B14 |
2 |
 |
muscular dystrophy-dystroglycanopathy type B2 |
1 |
 |
muscular dystrophy-dystroglycanopathy type B3 |
2 |
 |
muscular dystrophy-dystroglycanopathy type B6 |
14 |
 |
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities |
19 |
 |
non-syndromic intellectual disability + |
56 |
 |
nonprogressive cerebellar ataxia with mental retardation |
17 |
 |
optic atrophy 10 |
1 |
 |
parastremmatic dwarfism |
1 |
 |
photosensitive trichothiodystrophy 1 |
3 |
 |
spastic ataxia + |
82 |
 |
spondyloepimetaphyseal dysplasia, Genevieve-type |
2 |
 |
spondyloepiphyseal dysplasia tarda with intellectual disability |
0 |
 |
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability |
0 |
 |
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis |
1 |
 |
syndromic intellectual disability + |
761 |
 |
temtamy preaxial brachydactyly syndrome |
1 |
 |
uveal coloboma-cleft lip and palate-intellectual disability |
1 |
 |