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11p15.4 microduplication syndrome
14q24.1q24.3 microdeletion syndrome
15q overgrowth syndrome +
19p13.3 microduplication syndrome
2-hydroxyglutaric aciduria +
20p13 microdeletion syndrome
20q11.2 microdeletion syndrome
20q11.2 microduplication syndrome
22q11.2 deletion syndrome +
2p13.2 microdeletion syndrome
3q27.3 microdeletion syndrome
5q14.3 microdeletion syndrome
7p22.1 microduplication syndrome
8q24.3 microdeletion syndrome
9p13 microdeletion syndrome
9q31.1q31.3 microdeletion syndrome
acrocardiofacial syndrome
acrofacial dysostosis Rodriguez type
acrofacial dysostosis, Catania type
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
adult-onset nemaline myopathy
advanced sleep phase syndrome
agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
agnathia-otocephaly complex
aniridia-renal agenesis-psychomotor retardation syndrome
aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
arachnodactyly-abnormal ossification-intellectual disability syndrome
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
ATP1A3-associated neurological disorder +
autism spectrum disorder due to AUTS2 deficiency
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
autosomal dominant primary microcephaly +
autosomal recessive non-syndromic intellectual disability +
autosomal recessive spinocerebellar ataxia 20
B4GALT1-congenital disorder of glycosylation
Bailey-Bloch congenital myopathy
Bannayan-Riley-Ruvalcaba syndrome
Baraitser-Winter cerebrofrontofacial syndrome +
benign familial infantile epilepsy +
benign paroxysmal tonic upgaze of childhood with ataxia
bilateral frontoparietal polymicrogyria
bilateral generalized polymicrogyria
bilateral parasagittal parieto-occipital polymicrogyria
bilateral striopallidodentate calcinosis +
bilirubin encephalopathy +
biotin-responsive basal ganglia disease
bird headed-dwarfism, Montreal type
blepharonasofacial malformation syndrome
blepharophimosis - intellectual disability syndrome +
blepharophimosis - intellectual disability syndrome, MKB type
Bonnemann-Meinecke-Reich syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
brachydactyly-mesomelia-intellectual disability-heart defects syndrome
brachydactyly-nystagmus-cerebellar ataxia syndrome
brain malformation-congenital heart disease-postaxial polydactyly syndrome
brain-lung-thyroid syndrome
cardiac anomalies - developmental delay - facial dysmorphism syndrome
cardiocranial syndrome, Pfeiffer type
cardiofaciocutaneous syndrome +
cataract-deafness-hypogonadism syndrome
cataract-intellectual disability-anal atresia-urinary defects syndrome
caudal appendage-deafness syndrome
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
cerebral amyloid angiopathy +
cerebral cavernous malformation +
cerebral lipidosis with dementia +
cerebrooculonasal syndrome
cerebrotendinous xanthomatosis
Chiari malformation type I
Chiari malformation type II
childhood apraxia of speech
childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
childhood-onset nemaline myopathy +
chromosome 15q13.3 microdeletion syndrome
chromosome 15q24 deletion syndrome
chromosome 17p13.3 duplication syndrome
chromosome 17q21.31 duplication syndrome
chromosome 19p13.13 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 2p16.3 deletion syndrome
chromosome 5p13 duplication syndrome
chromosome 6pter-p24 deletion syndrome
chromosome 8q21.11 deletion syndrome
chromosome Xp11.23-p11.22 duplication syndrome
chronic inflammatory demyelinating polyneuropathy
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
cleft palate-short stature-vertebral anomalies syndrome
coloboma of optic nerve +
colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome
combined pituitary hormone deficiencies, genetic form +
complex cortical dysplasia with other brain malformations +
complex cortical dysplasia with other brain malformations 7
congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
congenital cataracts-facial dysmorphism-neuropathy syndrome
congenital contractural arachnodactyly
congenital heart defect-round face-developmental delay syndrome
congenital hydrocephalus +
congenital indifference to pain +
congenital insensitivity to pain with hyperhidrosis
congenital insensitivity to pain-hypohidrosis syndrome
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
congenital multicore myopathy with external ophthalmoplegia
congenital muscular dystrophy +
congenital myasthenic syndrome 15
congenital myopathy 7A, myosin storage, autosomal dominant
congenital or early infantile CACH syndrome
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
congenital stationary night blindness +
congenital trigeminal anesthesia
congenital vitreoretinal dysplasia +
Cornelia de Lange syndrome
cortical blindness-intellectual disability-polydactyly syndrome
craniodigital syndrome-intellectual disability syndrome
craniofaciofrontodigital syndrome
craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
creatine transporter deficiency
cryptorchidism-arachnodactyly-intellectual disability syndrome
deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
DeSanto-Shinawi syndrome +
developmental and epileptic encephalopathy, 18
developmental and epileptic encephalopathy, 36
developmental and epileptic encephalopathy, 55
developmental malformations-deafness-dystonia syndrome
dilated cardiomyopathy 3B
distal 17p13.1 microdeletion syndrome
Duane retraction syndrome +
DYRK1A-related intellectual disability syndrome +
dyskinesia with orofacial involvement, autosomal dominant
dysmorphism-short stature-deafness-disorder of sex development syndrome
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
encephalocraniocutaneous lipomatosis
encephalopathy due to mitochondrial and peroxisomal fission defect +
encephalopathy, acute, infection-induced +
epilepsy, familial adult myoclonic +
epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features +
epilepsy-microcephaly-skeletal dysplasia syndrome
epilepsy-telangiectasia syndrome
epiphyseal dysplasia-hearing loss-dysmorphism syndrome
facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
facial dysmorphism-shawl scrotum-joint laxity syndrome
faciocardiorenal syndrome
fallot complex-intellectual disability-growth delay syndrome
familial angiolipomatosis
familial congenital mirror movements +
familial congenital palsy of trochlear nerve
familial hemiplegic migraine +
familial hemophagocytic lymphohistiocytosis type 1
familial hyperprolactinemia
familial infantile myoclonic epilepsy
familial isolated pituitary adenoma +
familial multiple lipomatosis
familial partial epilepsy +
familial periodic paralysis +
familial pterygium of the conjunctiva
familial retinal arterial macroaneurysm
famililal cerebral cavernous malformations +
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
fibrodysplasia ossificans progressiva
folinic acid-responsive seizures
Gabriele de Vries syndrome
Gerstmann-Straussler-Scheinker syndrome
global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
GLUT1 deficiency syndrome +
glutaryl-CoA dehydrogenase deficiency
glycosylphosphatidylinositol biosynthesis defect 15
glycosylphosphatidylinositol biosynthesis defect 16
Goldberg-Shprintzen syndrome
Griscelli syndrome type 1
Hartsfield-Bixler-Demyer syndrome
hemangioma of subcutaneous tissue
hereditary cryohydrocytosis with reduced stomatin
hereditary generalized epilepsy +
hereditary hyperekplexia +
hereditary neuromuscular disease +
hereditary retinoblastoma
Hernández-Aguirre Negrete syndrome
hirsutism-skeletal dysplasia-intellectual disability syndrome
Hogue-Janssens syndrome 1
holoprosencephaly-hypokinesia-congenital contractures syndrome
holoprosencephaly-postaxial polydactyly syndrome
holoprosencephaly-radial heart renal anomalies syndrome
Houge-Janssens syndrome 2
Hoyeraal-Hreidarsson syndrome
HSD10 mitochondrial disease +
hypermanganesemia with dystonia 2
hypertelorism, microtia, facial clefting syndrome
hypoparathyroidism-retardation-dysmorphism syndrome
hypospadias-intellectual disability, Goldblatt type syndrome
hypotonia, infantile, with psychomotor retardation and characteristic facies +
inborn aminoacylase deficiency +
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
infantile-onset X-linked spinal muscular atrophy
inherited neurodegenerative disorder +
inherited orthostatic hypotension +
inherited reflex epilepsy +
inherited retinal dystrophy +
inherited vitreoretinopathy +
intellectual developmental disorder and retinitis pigmentosa
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
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 neuropsychiatric features
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
intellectual developmental disorder, autosomal recessive 71
intellectual disability, autosomal dominant +
intellectual disability, autosomal dominant 47
intellectual disability, autosomal recessive 53
intellectual disability, Buenos-Aires type
intellectual disability, Wolff type
intellectual disability-balding-patella luxation-acromicria syndrome
intellectual disability-brachydactyly-Pierre Robin syndrome
intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
intellectual disability-facial dysmorphism-hand anomalies syndrome
intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
intellectual disability-hypotonia-spasticity-sleep disorder syndrome
intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
intellectual disability-polydactyly-uncombable hair syndrome
intellectual disability-seizures-macrocephaly-obesity syndrome
intellectual disability-severe speech delay-mild dysmorphism syndrome
intellectual disability-short stature-hypertelorism syndrome
intellectual disability-sparse hair-brachydactyly syndrome
intellectual disability-spasticity-ectrodactyly syndrome
intermediate nemaline myopathy +
intracranial berry aneurysm +
isolated anhidrosis with normal sweat glands
isolated cerebellar hypoplasia/agenesis
isolated hereditary congenital facial paralysis
Johanson-Blizzard syndrome
Johnson neuroectodermal syndrome
KAT6B-related multiple congenital anomalies syndrome
Koolen-de Vries syndrome +
Landau-Kleffner syndrome +
lateral meningocele syndrome
Leber congenital amaurosis +
Lenz-Majewski hyperostotic dwarfism
lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
lethal multiple pterygium syndrome +
lethal omphalocele-cleft palate syndrome
leukoencephalopathy, megalencephalic +
linear nevus sebaceous syndrome
lissencephaly spectrum disorders +
macrocephaly-developmental delay syndrome
macrocephaly-short stature-paraplegia syndrome
macrocephaly-spastic paraplegia-dysmorphism syndrome
macrocephaly/megalencephaly syndrome, autosomal recessive
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
mandibulofacial dysostosis-microcephaly syndrome
marfanoid habitus and intellectual disability
marfanoid habitus-autosomal recessive intellectual disability syndrome
megalencephaly-capillary malformation-polymicrogyria syndrome
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome +
Mendelian neurodevelopmental disorder +
microangiopathy and leukoencephalopathy, pontine, autosomal dominant
microbrachycephaly-ptosis-cleft lip syndrome
microcephalic primordial dwarfism
microcephaly-brachydactyly-kyphoscoliosis syndrome
microcephaly-cardiomyopathy syndrome
microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
microcephaly-cervical spine fusion anomalies syndrome
microcephaly-cleft palate syndrome
microcephaly-complex motor and sensory axonal neuropathy syndrome
microcephaly-deafness-intellectual disability syndrome
microcephaly-glomerulonephritis-marfanoid habitus syndrome
microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
microcephaly-microcornea syndrome, Seemanova type
microcephaly-seizures-intellectual disability-heart disease syndrome
microcephaly-thin corpus callosum-intellectual disability syndrome
micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
microtriplication 11q24.1
mismatch repair cancer syndrome 1
mitochondrial neurogastrointestinal encephalomyopathy
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
mucopolysaccharidosis-plus syndrome
multiple congenital anomalies due to 14q32.2 maternally expressed gene defect +
multiple congenital anomalies-hypotonia-seizures syndrome +
multiple congenital anomalies-hypotonia-seizures syndrome 2
multiple pterygium-malignant hyperthermia syndrome
multiple symmetric lipomatosis
muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
MYH7-related skeletal myopathy
myopathy caused by variation in POMGNT1 +
myopathy due to calsequestrin and SERCA1 protein overload
myopic macular degeneration
neurocutaneous melanocytosis
neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome +
neuroectodermal-endocrine syndrome
neurofaciodigitorenal syndrome
neurohypophyseal diabetes insipidus
neuropathy, congenital hypomelinating +
nevoid basal cell carcinoma syndrome
nodular nonsuppurative panniculitis
noise-induced hearing loss
nonsyndromic genetic hearing loss +
normal pressure hydrocephalus
NPHP3-related Meckel-like syndrome
obsessive-compulsive disorder
occipital pachygyria and polymicrogyria
oculo-palato-cerebral syndrome
oculocerebrocutaneous syndrome
oculocerebrodental syndrome
oculocerebrofacial syndrome, Kaufman type
omphalocele syndrome, Shprintzen-Goldberg type
ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
orofaciodigital syndrome type 14
orofaciodigital syndrome type 6
osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome
palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
parkinsonism with polyneuropathy
paroxysmal extreme pain disorder
PAX6-related ocular dysgenesis +
periventricular nodular heterotopia +
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Pfeiffer-Palm-Teller syndrome
phakomatosis pigmentokeratotica
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Pierpont syndrome Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.
Pitt-Hopkins-like syndrome +
polyhydramnios, megalencephaly, and symptomatic epilepsy
pontocerebellar hypoplasia +
postsynaptic congenital myasthenic syndrome +
PPP2R1A-related intellectual disability
Prader-Willi-like syndrome +
preaxial polydactyly-colobomata-intellectual disability syndrome
prenatal-onset spinal muscular atrophy with congenital bone fractures +
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
progressive external ophthalmoplegia +
progressive myoclonic epilepsy type 3
progressive myoclonus epilepsy +
progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
prominent glabella-microcephaly-hypogenitalism syndrome
proximal myopathy with extrapyramidal signs
PRRT2-associated paroxysmal movement disorder +
pseudoaminopterin syndrome
pterygium colli-intellectual disability-digital anomalies syndrome
ptosis-syndactyly-learning difficulties syndrome
pyridoxal phosphate-responsive seizures
pyridoxine-dependent epilepsy +
qualitative or quantitative defects of alpha-sarcoglycan +
qualitative or quantitative defects of beta-myosin heavy chain (MYH7) +
qualitative or quantitative defects of beta-sarcoglycan +
qualitative or quantitative defects of delta-sarcoglycan +
qualitative or quantitative defects of desmin +
qualitative or quantitative defects of dysferlin +
qualitative or quantitative defects of gamma-sarcoglycan +
qualitative or quantitative defects of perlecan +
qualitative or quantitative defects of plectin +
qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan +
qualitative or quantitative defects of telethonin +
qualitative or quantitative defects of TRIM32 +
radioulnar synostosis-developmental delay-hypotonia syndrome
red-green color blindness
rhabdoid tumor predisposition syndrome 2
Ritscher-Schinzel syndrome +
Roch-Leri mesosomatous lipomatosis
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Rubinstein-Taybi syndrome +
sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
SATB2 associated disorder +
Say-Barber-Miller syndrome
Schinzel-Giedion syndrome
Schuurs-Hoeijmakers syndrome
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +
SERAC1-related neurological disorder +
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth +
severe congenital nemaline myopathy +
severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
severe intellectual disability-progressive spastic diplegia syndrome
severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
severe neonatal-onset encephalopathy with microcephaly
short stature-brachydactyly-obesity-global developmental delay syndrome
short stature-webbed neck-heart disease syndrome
short ulna-dysmorphism-hypotonia-intellectual disability syndrome
Shprintzen-Goldberg syndrome
SIN3A-related intellectual disability syndrome
Skraban-Deardorff syndrome
SLC6A3-related dopamine transporter deficiency syndrome +
Smith-Lemli-Opitz syndrome
SPAST-related motor disorder +
spastic paraplegia-severe developmental delay-epilepsy syndrome
spastic quadriplegic cerebral palsy +
specific language impairment +
spondylocostal dysostosis-hypospadias-intellectual disability syndrome
spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
SSR4-congenital disorder of glycosylation
subcortical band heterotopia +
syndromic multisystem autoimmune disease due to ITCH deficiency
syndromic X-linked intellectual disability 34
syndromic X-linked intellectual disability 5
syndromic X-linked intellectual disability 7
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Claes-Jensen type
syndromic X-linked intellectual disability Lubs type +
syndromic X-linked intellectual disability Shashi type
syndromic X-linked intellectual disability Siderius type
SYNGAP1-related developmental and epileptic encephalopathy
tall stature-intellectual disability-renal anomalies syndrome
Tatton-Brown-Rahman overgrowth syndrome
telecanthus-hypertelorism-strabismus-pes cavus syndrome
TH-deficient dopa-responsive dystonia
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
trichorhinophalangeal syndrome type II
TUBB3-related tubulinopathy +
typical nemaline myopathy +
undetermined early-onset epileptic encephalopathy +
upper limb defect-eye and ear abnormalities syndrome
urban-Rogers-Meyer syndrome
uveal coloboma-cleft lip and palate-intellectual disability
visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
Wiedemann-Rautenstrauch syndrome
Wiedemann-Steiner syndrome
X-linked adrenal hypoplasia congenita
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
X-linked congenital stationary night blindness +
X-linked immunoneurologic disorder
X-linked intellectual disability +
X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability, Cabezas type
X-linked intellectual disability, Pai type
X-linked intellectual disability, Stevenson type
X-linked intellectual disability, Stoll type
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
X-linked intellectual disability-plagiocephaly syndrome
X-linked recessive mitochondrial myopathy
X-linked syndromic intellectual disability +
Xp22.13p22.2 duplication syndrome
XYLT1-congenital disorder of glycosylation
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