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2-hydroxyglutaric aciduria +
adenine phosphoribosyltransferase deficiency
adenylosuccinate lyase deficiency
adult-onset nemaline myopathy
advanced sleep phase syndrome
Aminoacylase 1 deficiency
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
ATP1A3-associated neurological disorder +
autosomal recessive non-syndromic intellectual disability +
B4GALT1-congenital disorder of glycosylation
Bailey-Bloch congenital myopathy
benign familial infantile epilepsy +
bilateral frontoparietal polymicrogyria
bilateral generalized polymicrogyria
bilateral parasagittal parieto-occipital polymicrogyria
bilateral striopallidodentate calcinosis +
bilirubin encephalopathy +
biotin metabolic disease +
biotin-responsive basal ganglia disease
Bosch-Boonstra-Schaaf optic atrophy syndrome
brain-lung-thyroid syndrome
cardiac anomalies - developmental delay - facial dysmorphism syndrome
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
cerebral amyloid angiopathy +
cerebral creatine deficiency syndrome + Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.
cerebral lipidosis with dementia +
Chiari malformation type I
Chiari malformation type II
childhood absence epilepsy
childhood apraxia of speech
childhood-onset nemaline myopathy +
chromosome 2p16.3 deletion syndrome
chronic inflammatory demyelinating polyneuropathy
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
coloboma of optic nerve +
combined pituitary hormone deficiencies, genetic form +
complex cortical dysplasia with other brain malformations +
congenital hydrocephalus +
craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
creatine biosynthetic process disease +
dilated cardiomyopathy 3B
disorder of beta and omega amino acid metabolism +
disorder of fatty acid and ketone body metabolism +
disorder of fatty acid oxidation and ketogenesis +
disorder of glutamine metabolism +
disorder of glycogen metabolism +
disorder of melanin metabolism +
disorder of phenylalanine metabolism +
disorder of tyrosine metabolism +
Duane retraction syndrome +
dyskinesia with orofacial involvement, autosomal dominant
early myoclonic encephalopathy +
encephalopathy, acute, infection-induced +
epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features +
epileptic encephalopathy, infantile or early childhood +
familial congenital mirror movements +
familial congenital palsy of trochlear nerve
familial hemiplegic migraine +
familial hemophagocytic lymphohistiocytosis type 1
familial hyperprolactinemia
familial isolated pituitary adenoma +
familial partial epilepsy +
familial periodic paralysis +
familial pterygium of the conjunctiva
familial retinal arterial macroaneurysm
famililal cerebral cavernous malformations +
folinic acid-responsive seizures
gamma-amino butyric acid metabolism disorder +
generalized epilepsy with febrile seizures plus +
Gerstmann-Straussler-Scheinker syndrome
GLUT1 deficiency syndrome +
glutaryl-CoA dehydrogenase deficiency
glycine metabolism disease +
Griscelli syndrome type 1
hereditary cryohydrocytosis with reduced stomatin
hereditary hyperekplexia +
hereditary neuromuscular disease +
hereditary night blindness +
hereditary retinoblastoma
holocarboxylase synthetase deficiency
Hoyeraal-Hreidarsson syndrome
HSD10 mitochondrial disease +
hypermanganesemia with dystonia 2
hyperphenylalaninemia due to DNAJC12 deficiency
hyperphenylalaninemia due to tetrahydrobiopterin deficiency +
inborn aminoacylase deficiency +
inborn disorder of amino acid transport +
inborn disorder of aspartate family metabolism +
inborn disorder of bile acid synthesis +
inborn disorder of branched-chain amino acid metabolism +
inborn disorder of gamma-aminobutyric acid metabolism
inborn disorder of histidine metabolism +
inborn disorder of methionine cycle and sulfur amino acid metabolism +
inborn disorder of ornithine metabolism +
inborn disorder of ornithine or proline metabolism +
inborn disorder of phenylalanine and tyrosine metabolism +
inborn disorder of proline metabolism +
inborn disorder of serine family metabolism +
inborn disorder of the gamma-glutamyl cycle +
inborn disorder of tryptophan metabolism +
inborn error of biotin metabolism +
inborn mitochondrial metabolism disorder +
inborn organic aciduria +
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
inherited fatty acid metabolism disorder +
inherited lipoic acid biosynthesis defect +
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 speech delay, dysmorphic facies, and t-cell abnormalities
intellectual disability, autosomal dominant +
intellectual disability, autosomal recessive 53
intellectual disability-hypotonia-spasticity-sleep disorder syndrome
intellectual disability-severe speech delay-mild dysmorphism syndrome
intellectual disability-sparse hair-brachydactyly syndrome
intracranial berry aneurysm +
isolated hereditary congenital facial paralysis
Johanson-Blizzard syndrome
juvenile absence epilepsy
Landau-Kleffner syndrome +
lateral meningocele syndrome
lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
leukoencephalopathy, megalencephalic +
linear nevus sebaceous syndrome
lissencephaly spectrum disorders +
megalencephaly-capillary malformation-polymicrogyria syndrome
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome +
Mendelian neurodevelopmental disorder +
microangiopathy and leukoencephalopathy, pontine, autosomal dominant
microcephaly-complex motor and sensory axonal neuropathy syndrome
mismatch repair cancer syndrome 1
mitochondrial DNA depletion syndrome 4a
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
multiple pterygium-malignant hyperthermia syndrome
myoclonic-astatic epilepsy
myopathy caused by variation in POMGNT1 +
myopathy due to calsequestrin and SERCA1 protein overload
myopic macular degeneration
neurocutaneous melanocytosis
neurohypophyseal diabetes insipidus
nevoid basal cell carcinoma syndrome
noise-induced hearing loss
nonsyndromic genetic hearing loss +
NPHP3-related Meckel-like syndrome
obsessive-compulsive disorder
occipital pachygyria and polymicrogyria
oculocerebrocutaneous syndrome
orofaciodigital syndrome type 6
parkinsonism with polyneuropathy
paroxysmal extreme pain disorder
PAX6-related ocular dysgenesis +
periventricular nodular heterotopia +
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
phakomatosis pigmentokeratotica
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
polyhydramnios, megalencephaly, and symptomatic epilepsy
pontocerebellar hypoplasia +
PPP2R1A-related intellectual disability
Prader-Willi-like syndrome +
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
progressive myoclonus epilepsy +
proximal myopathy with extrapyramidal signs
PRRT2-associated paroxysmal movement disorder +
pyridoxal phosphate-responsive seizures
pyridoxine-dependent epilepsy +
pyruvate dehydrogenase deficiency +
pyruvate metabolism disorder +
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 +
red-green color blindness
rhabdoid tumor predisposition syndrome 2
Ritscher-Schinzel syndrome +
sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
SATB2 associated disorder +
Schinzel-Giedion 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 intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
severe neonatal-onset encephalopathy with microcephaly
short stature-brachydactyly-obesity-global developmental delay syndrome
SIN3A-related intellectual disability syndrome
SLC6A3-related dopamine transporter deficiency syndrome +
SPAST-related motor disorder +
spastic quadriplegic cerebral palsy +
specific language impairment +
SYNGAP1-related developmental and epileptic encephalopathy
systemic primary carnitine deficiency disease
TH-deficient dopa-responsive dystonia
tricarboxylic acid cycle disorder +
TUBB3-related tubulinopathy +
typical nemaline myopathy +
undetermined early-onset epileptic encephalopathy +
valine metabolism disease +
X-linked immunoneurologic disorder
X-linked intellectual disability +
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