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2q37 microdeletion syndrome
46,XX disorder of sex development-anorectal anomalies syndrome
6q terminal deletion syndrome
8p23.1 microdeletion syndrome
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
absence deformity of leg-cataract syndrome
absent radius-anogenital anomalies syndrome
absent tibia-polydactyly-arachnoid cyst syndrome
achalasia-alacrima syndrome
acrofrontofacionasal dysostosis 2
acromesomelic dysplasia 2B
Acroosteolysis dominant type
acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
acute respiratory distress syndrome +
Alkuraya-Kucinskas syndrome
alopecia - intellectual disability syndrome
alopecia-epilepsy-pyorrhea-intellectual disability syndrome
alpha 1-antitrypsin deficiency
alpha thalassemia-intellectual disability syndrome type 1
alpha-thalassemia-myelodysplastic syndrome
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
angioosteohypertrophic syndrome
angioosteohypotrophic syndrome
aniridia - intellectual disability syndrome
aniridia-absent patella syndrome
aniridia-cerebellar ataxia-intellectual disability syndrome
aniridia-ptosis-intellectual disability-familial obesity syndrome
aniridia-renal agenesis-psychomotor retardation syndrome
ankyloblepharon filiforme adnatum-cleft palate syndrome
ankyloblepharon filiforme-imperforate anus syndrome
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +
anophthalmia plus syndrome
anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
anterior spinal artery syndrome
antiphospholipid syndrome
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
aphalangy-syndactyly-microcephaly syndrome
aplasia cutis congenita-intestinal lymphangiectasia syndrome
aplasia of lacrimal and salivary glands
arachnodactyly-intellectual disability-dysmorphism syndrome
arthrogryposis syndrome +
arthrogryposis, distal, type 2B3
arthrogryposis-renal dysfunction-cholestasis syndrome +
ataxia - telangiectasia variant
atrial septal defect, coronary sinus type
atrioventricular defect-blepharophimosis-radial and anal defect syndrome
atypical hemolytic-uremic syndrome +
autism-facial port-wine stain syndrome
autoimmune polyendocrinopathy +
autoinflammation with episodic fever and lymphadenopathy
autoinflammatory syndrome +
autosomal dominant Alport syndrome
autosomal dominant brachyolmia
autosomal dominant cataract
autosomal dominant centronuclear myopathy
autosomal dominant cerebellar ataxia +
autosomal dominant chondrodysplasia punctata +
autosomal dominant coarctation of aorta
autosomal dominant complex spastic paraplegia +
autosomal dominant cutis laxa +
autosomal dominant deafness - onychodystrophy syndrome
autosomal dominant distal myopathy +
autosomal dominant distal renal tubular acidosis
autosomal dominant Ehlers-Danlos syndrome, vascular type
autosomal dominant Emery-Dreifuss muscular dystrophy +
autosomal dominant epidermolytic ichthyosis +
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
autosomal dominant hereditary sensory and autonomic neuropathy
autosomal dominant hypocalcemia +
autosomal dominant hypohidrotic ectodermal dysplasia +
autosomal dominant hypophosphatemic rickets
autosomal dominant ichthyosis vulgaris +
autosomal dominant intermediate Charcot-Marie-Tooth disease +
autosomal dominant Kenny-Caffey syndrome
autosomal dominant keratitis
autosomal dominant keratitis-ichthyosis-hearing loss syndrome
autosomal dominant medullary cystic kidney disease with or without hyperuricemia +
autosomal dominant myoglobinuria
autosomal dominant nonsyndromic hearing loss +
autosomal dominant oculocutaneous albinism
autosomal dominant omodysplasia
autosomal dominant optic atrophy +
autosomal dominant osteopetrosis +
Autosomal dominant polycystic kidney disease +
autosomal dominant polycystic liver disease +
autosomal dominant popliteal pterygium syndrome
autosomal dominant primary microcephaly +
autosomal dominant progressive external ophthalmoplegia +
autosomal dominant proximal renal tubular acidosis
autosomal dominant proximal spinal muscular atrophy
autosomal dominant pure spastic paraplegia
autosomal dominant rhegmatogenous retinal detachment
autosomal dominant Robinow syndrome
autosomal dominant secondary polycythemia
autosomal dominant severe congenital neutropenia +
autosomal dominant sideroblastic anemia
autosomal dominant spastic ataxia +
autosomal dominant spondylocostal dysostosis
autosomal dominant titinopathy +
autosomal dominant vibratory urticaria
autosomal recessive amelia
autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
autosomal recessive multiple pterygium syndrome +
Axenfeld-Rieger syndrome +
axial mesodermal dysplasia spectrum
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
Bamforth-Lazarus syndrome
Bannayan-Riley-Ruvalcaba syndrome
Baraitser-Winter cerebrofrontofacial syndrome +
Basilicata-Akhtar syndrome
Beare-Stevenson cutis gyrata syndrome
Birt-Hogg-Dube syndrome +
blepharocheilodontic syndrome +
blepharophimosis - intellectual disability syndrome, SBBYS type
blepharophimosis, ptosis, and epicanthus inversus syndrome +
blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Bonnemann-Meinecke-Reich syndrome
brachydactyly-arterial hypertension syndrome
brachydactyly-nystagmus-cerebellar ataxia syndrome
brachydactyly-preaxial hallux varus syndrome
Brachymorphism-onychodysplasia-dysphalangism syndrome
brachytelephalangy-dysmorphism-Kallmann syndrome
brain abnormalities, neurodegeneration, and dysosteosclerosis
branchio-oto-renal syndrome
branchiooculofacial syndrome
breast-ovarian cancer, familial, susceptibility to, 1
Brooke-Spiegler syndrome +
Buschke-Ollendorff syndrome
camptodactyly syndrome, Guadalajara type 2
camptodactyly-taurinuria syndrome
Camurati-Engelmann disease
Cardiac-urogenital syndrome
cardioectodermal syndrome +
cardiomyopathy-cataract-hip spine disease syndrome
cataract - microcornea syndrome
cataract-aberrant oral frenula-growth delay syndrome
cataract-deafness-hypogonadism syndrome
cataract-glaucoma syndrome
cataract-intellectual disability-anal atresia-urinary defects syndrome
cataract-nephropathy-encephalopathy syndrome
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis +
caudal regression-sirenomelia spectrum +
Cenani-Lenz syndactyly syndrome
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
central hypoventilation syndrome, late-onset
central nervous system calcification-deafness-tubular acidosis-anemia syndrome
central sleep apnea syndrome +
cerebellar ataxia, intellectual disability, and dysequilibrium +
cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy +
cerebrocostomandibular syndrome
Cerebrorenodigital syndrome
channelopathy-associated congenital insensitivity to pain, autosomal recessive
charcot-marie-tooth disease, axonal, type 2DD
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
chondrodysplasia-pseudohermaphroditism syndrome
chromosome 13q14 deletion syndrome
chromosome 16p12.1 deletion syndrome, 520kb
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chronic atrial and intestinal dysrhythmia
circumscribed cutaneous aplasia of the vertex
cleft lip-retinopathy syndrome
cleft lip/palate-deafness-sacral lipoma syndrome
cleidocranial dysplasia 1
cleidorhizomelic syndrome
cochleosaccular degeneration-cataract syndrome
COG1-congenital disorder of glycosylation
COG5-congenital disorder of glycosylation
complex hereditary spastic paraplegia +
congenital absence of both forearm and hand +
congenital absence of both lower leg and foot +
congenital absence of thigh and lower leg with foot present +
congenital absence of upper arm and forearm with hand present
congenital cataract-ichthyosis syndrome
congenital hereditary facial paralysis-variable hearing loss syndrome
congenital ichthyosis-microcephalus-tetraplegia syndrome
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
congenital myasthenic syndrome +
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
congenital pseudoarthrosis of clavicle
congenital pseudoarthrosis of the limbs +
congenital radioulnar synostosis +
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
corneal dystrophy-perceptive deafness syndrome
corneal-cerebellar syndrome
Cornelia de Lange syndrome
corpus callosum agenesis-abnormal genitalia syndrome
cortical blindness-intellectual disability-polydactyly syndrome
cortical dysplasia-focal epilepsy syndrome
corticobasal degeneration disorder
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome
craniofrontonasal syndrome
Crigler-Najjar syndrome +
Crouzon syndrome-acanthosis nigricans syndrome
cystic fibrosis-gastritis-megaloblastic anemia syndrome
de Sanctis-Cacchione syndrome
deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
deafness-hypogonadism syndrome
deafness-infertility syndrome
deafness-intellectual disability, Martin-Probst type syndrome
deafness-lymphedema-leukemia syndrome
dermochondrocorneal dystrophy
developmental and speech delay due to SOX5 deficiency
diabetes, deafness, developmental delay, and short stature syndrome
diaphragmatic defect-limb deficiency-skull defect syndrome
DICER1-related tumor predisposition +
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
diffuse nonepidermolytic palmoplantar keratoderma
digital anomalies-intellectual disability-short stature syndrome
dilated cardiomyopathy 1A
dilated cardiomyopathy 1E
disappearing bone disease +
distal arthrogryposis type 2B1
diverticulosis of bowel, hernia, and retinal detachment
DK1-congenital disorder of glycosylation
double uterus-hemivagina-renal agenesis syndrome
Duane retraction syndrome +
Duane-radial ray syndrome +
Dyggve-Melchior-Clausen disease +
dyschondrosteosis-nephritis syndrome
dyskeratosis congenita, autosomal dominant 2
dyskeratosis congenita, autosomal dominant 3
dysostosis multiplex, Ain-Naz type
dyssegmental dysplasia-glaucoma syndrome
early-onset autosomal dominant Alzheimer disease +
ectodermal dysplasia syndrome +
ectrodactyly-polydactyly syndrome
EEC syndrome + EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).
Ehlers-Danlos syndrome, classic type +
enlarged vestibular aqueduct syndrome
epidermolysis bullosa simplex 5B, with muscular dystrophy
epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
epilepsy, early-onset, with or without developmental delay
epiphyseal dysplasia-hearing loss-dysmorphism syndrome
extensor tendons of finger anomalies
eyebrow duplication-syndactyly syndrome
faciodigitogenital syndrome +
familial chylomicronemia syndrome +
familial clubfoot with or without associated lower limb anomalies +
familial digital arthropathy-brachydactyly
familial episodic pain syndrome with predominantly lower limb involvement
familial infantile bilateral striatal necrosis
familial intestinal malrotation-facial anomalies syndrome
familial long QT syndrome +
familial osteodysplasia, Anderson type
familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Fanconi renotubular syndrome +
femoral agenesis/hypoplasia +
femur-fibula-ulna complex
ferro-cerebro-cutaneous syndrome
fetal akinesia deformation sequence +
fetal enterovirus syndrome
fibromatosis multiple non ossifying
fibular aplasia-ectrodactyly syndrome
fibular dimelia-diplopodia syndrome
finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
fragile X-associated tremor/ataxia syndrome
frontofacionasal dysplasia
Galloway-Mowat syndrome +
Gamstorp-Wohlfart syndrome
generalized juvenile polyposis/juvenile polyposis coli
gingival fibromatosis-facial dysmorphism syndrome
glass-chapman-hockley syndrome
glaucoma-sleep apnea syndrome
global developmental delay with or without impaired intellectual development
global developmental delay, progressive ataxia, and elevated glutamine
global developmental delay-osteopenia-ectodermal defect syndrome
Goldberg-Shprintzen syndrome
Greig cephalopolysyndactyly syndrome
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
growth delay-hydrocephaly-lung hypoplasia syndrome
growth hormone insensitivity syndrome +
growth retardation-mild developmental delay-chronic hepatitis syndrome
Grubben-de Cock-Borghgraef syndrome
GUCY2D-related dominant retinopathy +
Guillain-Barre syndrome +
hair defect with photosensitivity and intellectual disability syndrome
hallux varus-preaxial polysyndactyly syndrome
hand-foot-genital syndrome
hantavirus pulmonary syndrome
Hartsfield-Bixler-Demyer syndrome
hearing impairment and infertile male syndrome
hearing loss-familial salivary gland insensitivity to aldosterone syndrome
heart-hand syndrome, Slovenian type
hemophagocytic syndrome +
hepatic fibrosis-renal cysts-intellectual disability syndrome
hereditary benign intraepithelial dyskeratosis
hereditary breast ovarian cancer syndrome
hereditary continuous muscle fiber activity
hereditary hemorrhagic telangiectasia +
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
hereditary sensory and autonomic neuropathy with deafness and global delay
hereditary thrombocytosis with transverse limb defect
high myopia-sensorineural deafness syndrome
Hirschsprung disease-ganglioneuroblastoma syndrome
Hirschsprung disease-hearing loss-polydactyly syndrome
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Hirschsprung disease-type D brachydactyly syndrome
holoprosencephaly-postaxial polydactyly syndrome
Holzgreve-Wagner-Rehder syndrome
Houge-Janssens syndrome +
Houge-Janssens syndrome 2
humero-radio-ulnar synostosis +
humero-ulnar synostosis +
humeroradial synostosis +
Hutchinson-Gilford progeria syndrome
hydrocephalus-blue sclerae-nephropathy syndrome
hydrocephalus-obesity-hypogonadism syndrome
hydrocephaly-cerebellar agenesis syndrome
hyper-IgE recurrent infection syndrome 1, autosomal dominant
Hypereosinophilic syndrome +
hypergonadotropic hypogonadism-cataract syndrome
hyperkeratosis-hyperpigmentation syndrome
hyperphosphatasia-intellectual disability syndrome
hypertrichotic osteochondrodysplasia Cantu type
Hypoglossia-hypodactyly syndrome
hypogonadism-mitral valve prolapse-intellectual disability syndrome
hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
hypoparathyroidism-deafness-renal disease syndrome
hypoparathyroidism-retardation-dysmorphism syndrome
hypopigmentation-punctate palmoplantar keratoderma syndrome
hypoplastic left heart syndrome +
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
hypospadias-intellectual disability, Goldblatt type syndrome
hypotonia-cystinuria syndrome +
hypotrichosis-deafness syndrome
hypotrichosis-intellectual disability, Lopes type
hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
ichthyosis linearis circumflexa
ichthyosis prematurity syndrome
ichthyosis-cheek-eyebrow syndrome
ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
ichthyosis-oral and digital anomalies syndrome
Imerslund-Grasbeck syndrome +
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
imperforate oropharynx-costo vetebral anomalies syndrome
IMPG1-related dominant retinopathy +
inclusion body myopathy and brain white matter abnormalities
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +
infantile convulsions and choreoathetosis
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
inflammatory bowel disease, immunodeficiency, and encephalopathy
infundibulopelvic stenosis-multicystic kidney syndrome
intellectual developmental disorder 60 with seizures
intellectual developmental disorder with impaired language and dysmorphic facies
intellectual developmental disorder with macrocephaly, seizures, and speech delay
intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
intellectual developmental disorder with short stature and behavioral abnormalities
intellectual developmental disorder with speech delay, autism and dysmorphic facies
intellectual developmental disorder, autosomal recessive 72
intellectual disability, autosomal dominant +
intellectual disability, autosomal dominant 14
intellectual disability, autosomal dominant 16
intellectual disability, autosomal dominant 29
intellectual disability-brachydactyly-Pierre Robin syndrome
intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
intellectual disability-cataracts-kyphosis syndrome
intellectual disability-epilepsy-extrapyramidal syndrome
intellectual disability-expressive aphasia-facial dysmorphism syndrome
intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
intellectual disability-hypotonia-skin hyperpigmentation syndrome
intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
intellectual disability-spasticity-ectrodactyly syndrome
intellectual disability-strabismus syndrome
iridocorneal endothelial syndrome +
ischio-vertebral syndrome
isolated congenital adermatoglyphia
joint laxity, short stature, and myopia
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect +
juvenile cataract-microcornea-renal glucosuria syndrome
Karsch-Neugebauer syndrome
keratosis follicularis-dwarfism-cerebral atrophy syndrome
Landau-Kleffner syndrome +
laryngeal abductor paralysis-intellectual disability syndrome
laryngo-onycho-cutaneous syndrome
lateral medullary syndrome
left ventricular noncompaction +
left-right axis malformations
Lennox-Gastaut syndrome +
Lenz-Majewski hyperostotic dwarfism
lethal congenital contracture syndrome 1
lethal faciocardiomelic dysplasia
lethal hemolytic anemia-genital anomalies syndrome
lethal multiple pterygium syndrome +
limb transversal defect-cardiac anomaly syndrome
Long-Olsen-Distelmaier syndrome
Lopes-Maciel-Rodan syndrome
lower limb deficiency-hypospadias syndrome
Lown-Ganong-Levine syndrome
lung agenesis-heart defect-thumb anomalies syndrome
lymphedema-atrial septal defects-facial changes syndrome
lymphedema-cerebral arteriovenous anomaly syndrome
lymphedema-distichiasis syndrome
macrocephaly-autism syndrome
macrocephaly-short stature-paraplegia syndrome
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
mammary-digital-nail syndrome
mandibulofacial dysostosis with alopecia
mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
mandibulofacial dysostosis-microcephaly syndrome
Marinesco-Sjogren syndrome
maternally-inherited progressive external ophthalmoplegia
Mayer-Rokitansky-Kuster-Hauser syndrome +
megacystis-microcolon-intestinal hypoperistalsis syndrome +
megalencephaly-polydactyly syndrome
melanoma, cutaneous malignant, susceptibility to, 2
Melkersson-Rosenthal syndrome
Menke-Hennekam syndrome 1
Menke-Hennekam syndrome 2
mesomelic dwarfism-cleft palate-camptodactyly syndrome
metaphyseal chondrodysplasia, Jansen type
metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
microcephalic osteodysplastic dysplasia, Saul-Wilson type
microcephalic osteodysplastic primordial dwarfism types I and III +
microcephalic primordial dwarfism due to RTTN deficiency +
microcephalic primordial dwarfism, Alazami type
microcephalic primordial dwarfism, Toriello type
microcephaly and chorioretinopathy 1
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
microcephaly-brachydactyly-kyphoscoliosis syndrome
microcephaly-brain defect-spasticity-hypernatremia syndrome
microcephaly-capillary malformation syndrome
microcephaly-complex motor and sensory axonal neuropathy syndrome
microcephaly-microcornea syndrome, Seemanova type
microlissencephaly-micromelia syndrome
microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Mikati-Najjar-Sahli syndrome
Miller-Dieker lissencephaly syndrome
mirror polydactyly-vertebral segmentation-limbs defects syndrome
mitochondrial DNA depletion syndrome 4a
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
mitochondrial neurogastrointestinal encephalomyopathy
Mononen-Karnes-Senac syndrome
motor developmental delay due to 14q32.2 paternally expressed gene defect +
MPI-congenital disorder of glycosylation
mucopolysaccharidosis type 2 +
mucopolysaccharidosis type 3 +
mucopolysaccharidosis type 4 +
mucopolysaccharidosis type 6 +
mullerian derivatives-lymphangiectasia-polydactyly syndrome
mullerian duct anomalies-limb anomalies syndrome
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
multiple cutaneous and mucosal venous malformations
multiple endocrine neoplasia type 1
multiple endocrine neoplasia type 2A
multiple endocrine neoplasia type 2B
multiple endocrine neoplasia type 4
multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
multiple synostoses syndrome +
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
muscular dystrophy, limb-girdle, autosomal dominant +
muscular pseudohypertrophy-hypothyroidism syndrome
myoclonic-astatic epilepsy
myopathy-growth delay-intellectual disability-hypospadias syndrome
Nager acrofacial dysostosis
nasopalpebral lipoma-coloboma syndrome
neonatal aspiration syndrome +
neonatal ichthyosis-sclerosing cholangitis syndrome
nephrogenic diabetes insipidus-intracranial calcification syndrome
nephropathy - deafness - hyperparathyroidism syndrome
nephrosis-deafness-urinary tract-digital malformations syndrome
neurodevelopmental disorder with absent language and variable seizures
neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
neurodevelopmental disorder with macrocephaly and with or without seizures
neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements
neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome +
neurohypophyseal diabetes insipidus
neuroleptic malignant syndrome
neuronopathy, distal hereditary motor, autosomal dominant +
neurooculocardiogenitourinary syndrome
nevoid basal cell carcinoma syndrome
NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction +
nodular neuronal heterotopia +
NOG-related symphalangism spectrum disorder +
Noonan syndrome with multiple lentigines
O'Donnell-Luria-Rodan syndrome
obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
obstructive sleep apnea +
oculo-skeletal-renal syndrome
oculoauriculovertebral spectrum with radial defects +
oculocerebrodental syndrome
oculocerebrofacial syndrome, Kaufman type
oculocerebrorenal syndrome
oculodental syndrome, Rutherfurd type
oculogastrointestinal muscular dystrophy
oculogastrointestinal-neurodevelopmental syndrome
oculomaxillofacial dysostosis +
oculomotor nerve paralysis +
olivopontocerebellar atrophy-deafness syndrome
ornithine translocase deficiency
orofaciodigital syndrome I
oromandibular-limb anomalies syndrome +
osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
osteopenia-intellectual disability-sparse hair syndrome
osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
osteoporosis-pseudoglioma syndrome
osteosclerosis-ichthyosis-premature ovarian failure syndrome
otopalatodigital syndrome type 1
Pallister-Hall syndrome +
palmoplantar keratoderma-esophageal carcinoma syndrome
palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome +
palmoplantar keratoderma-spastic paralysis syndrome
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Parana hard-skin syndrome
paraneoplastic syndrome +
paraplegia-intellectual disability-hyperkeratosis syndrome
parkinsonism-dystonia, infantile +
patella aplasia/hypoplasia +
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
pelvic dysplasia-arthrogryposis of lower limbs syndrome
pelvis-shoulder dysplasia
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
peroxisome biogenesis disorder +
phocomelia, Schinzel type
phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
pili torti-developmental delay-neurological abnormalities syndrome
pituitary stalk interruption syndrome
PMP22-RAI1 contiguous gene duplication syndrome
polycystic ovary syndrome
polydactyly-macrocephaly syndrome
polydactyly-myopia syndrome
polyendocrine-polyneuropathy syndrome
polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
post-infectious syndrome +
postaxial acrofacial dysostosis
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
postaxial tetramelic oligodactyly
posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
Prata-Liberal-Goncalves syndrome
primary ciliary dyskinesia +
primary hypergonadotropic hypogonadism-partial alopecia syndrome
primary hypertrophic osteoarthropathy +
primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
progeria-short stature-pigmented nevi syndrome
progressive familial intrahepatic cholestasis +
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
progressive non-infectious anterior vertebral fusion
progressive supranuclear palsy +
PROM1-related dominant retinopathy +
proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
ptosis-strabismus-ectopic pupils syndrome
ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
ptosis-vocal cord paralysis syndrome
pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Rabson-Mendenhall syndrome
radial deficiency-tibial hypoplasia syndrome
radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
radioulnar synostosis-developmental delay-hypotonia syndrome
radioulnar synostosis-microcephaly-scoliosis syndrome
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
reflex sympathetic dystrophy
renal cysts and diabetes syndrome
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
retinoschisis, autosomal dominant
Reunion island Larsen syndrome
RNU4ATAC spectrum disorder +
Roberts-SC phocomelia syndrome
Rubinstein Taybi like syndrome
Rubinstein-Taybi syndrome +
Say-Barber-Miller syndrome
Say-field-Coldwell syndrome
scalp defects-postaxial polydactyly syndrome
Scapuloperoneal spinal muscular atrophy
Schmid metaphyseal chondrodysplasia
Schwartz-Jampel syndrome +
severe achondroplasia-developmental delay-acanthosis nigricans syndrome
severe dermatitis-multiple allergies-metabolic wasting syndrome
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
short fifth metacarpals-insulin resistance syndrome
short rib-polydactyly syndrome +
short stature and microcephaly with genital anomalies
short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
shoulder and girdle defects-familial intellectual disability syndrome
shoulder and thorax deformity-congenital heart disease syndrome
Shwachman-Diamond syndrome
sickle cell-beta-thalassemia disease syndrome
sickle cell-hemoglobin c disease syndrome
sickle cell-hemoglobin d disease syndrome
sickle cell-hemoglobin E disease syndrome
Silver-Russell syndrome +
Simpson-Golabi-Behmel syndrome +
skeletal dysplasia-epilepsy-short stature syndrome
skin fragility-woolly hair-palmoplantar keratoderma syndrome
Skraban-Deardorff syndrome
Snijders Blok-Campeau syndrome
Snijders Blok-Fisher syndrome
sodium channelopathy-related small fiber neuropathy
spastic ataxia-corneal dystrophy syndrome
spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
spina bifida-hypospadias syndrome
spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant
splenogonadal fusion-limb defects-micrognathia syndrome
split hand or/and split foot malformation
split hand-foot malformation +
split hand-foot malformation 1 with sensorineural hearing loss
split-foot malformation-mesoaxial polydactyly syndrome
spondylocostal dysostosis +
spondylocostal dysostosis-anal and genitourinary malformations syndrome
spondylocostal dysostosis-hypospadias-intellectual disability syndrome
spondyloepimetaphyseal dysplasia with multiple dislocations
spondyloepiphyseal dysplasia tarda, autosomal dominant
Stankiewicz-Isidor syndrome
Stern-Lubinsky-Durrie syndrome
subaortic stenosis-short stature syndrome
subclavian steal syndrome
subcortical band heterotopia +
substance withdrawal syndrome +
symphalangism with multiple anomalies of hands and feet
syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
syndactyly-polydactyly-ear lobe syndrome
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic agammaglobulinemia +
syndromic congenital sodium diarrhea
syndromic craniosynostosis +
syndromic intellectual disability +
syndromic microphthalmia +
syndromic oculocutaneous albinism +
syndromic orbital border hypoplasia
syndromic retinitis pigmentosa
syngnathia multiple anomalies
tall stature-scoliosis-macrodactyly of the great toes syndrome
tarsal-carpal coalition syndrome
temtamy preaxial brachydactyly syndrome
tethered spinal cord syndrome
tetraamelia-multiple malformations syndrome
thanatophoric dysplasia type 1
thoracic outlet syndrome +
thoraco-abdominal enteric duplication
thrombocytopenia-absent radius syndrome
thrombophilia due to protein S deficiency, autosomal dominant
thumb stiffness-brachydactyly-intellectual disability syndrome
thyrocerebrorenal syndrome
tibia, hypoplasia or aplasia of, with polydactyly
tibial aplasia-ectrodactyly syndrome +
torticollis-keloids-cryptorchidism-renal dysplasia syndrome
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
Treacher-Collins syndrome +
trichorhinophalangeal syndrome type I or III
trichorhinophalangeal syndrome type II
trigonocephaly-short stature-developmental delay syndrome
triphalangeal thumb-polysyndactyly syndrome
triphalangeal thumbs-brachyectrodactyly syndrome
tubular renal disease-cardiomyopathy syndrome
ulna hypoplasia-intellectual disability syndrome
ulnar hypoplasia-split foot syndrome
ulnar/fibula ray defect-brachydactyly syndrome
umbilical cord ulceration-intestinal atresia syndrome
VACTERL with hydrocephalus +
VACTERL/vater association +
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Waterhouse-Friderichsen syndrome
Weill-Marchesani syndrome +
Wernicke-Korsakoff syndrome
white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
Wiedemann-Rautenstrauch syndrome
Wolcott-Rallison syndrome
wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked ichthyosis syndrome +
X-linked lissencephaly with abnormal genitalia
X-linked mandibulofacial dysostosis
X-linked spasticity-intellectual disability-epilepsy syndrome
xeroderma pigmentosum-Cockayne syndrome complex +
xerosis and growth failure with immune and pulmonary dysfunction syndrome
Yuksel-Vogel-Bauer syndrome
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