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2-hydroxyglutaric aciduria +
absence of fingerprints-congenital milia syndrome
acrokeratosis verruciformis
adult-onset nemaline myopathy
advanced sleep phase syndrome
albinism-hearing loss syndrome
aplasia cutis congenita +
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
ATP1A3-associated neurological disorder +
autosomal dominant vibratory urticaria
autosomal recessive cutis laxa type 2A +
autosomal recessive non-syndromic intellectual disability +
B4GALT1-congenital disorder of glycosylation
Bailey-Bloch congenital myopathy
benign familial infantile epilepsy +
benign melanocytic skin nevus +
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
body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
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
central nervous system organ benign neoplasm +
cerebral amyloid angiopathy +
cerebral lipidosis with dementia +
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 2p16.3 deletion syndrome
chronic inflammatory demyelinating polyneuropathy
chronic mucocutaneous candidiasis +
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
coloboma of optic nerve +
combined immunodeficiency with skin granulomas
combined pituitary hormone deficiencies, genetic form +
complex cortical dysplasia with other brain malformations +
congenital hydrocephalus +
congenital stationary night blindness +
craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
dermatitis herpetiformis, familial
dermatosis papulosa nigra
dilated cardiomyopathy 3B
DK1-congenital disorder of glycosylation
Duane retraction syndrome +
dyschromatosis universalis hereditaria +
dyskinesia with orofacial involvement, autosomal dominant
ectodermal dysplasia syndrome +
encephalocraniocutaneous lipomatosis
encephalopathy due to mitochondrial and peroxisomal fission defect +
encephalopathy, acute, infection-induced +
epidermodysplasia verruciformis +
epilepsy, familial adult myoclonic +
epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features +
familial acanthosis nigricans
familial chilblain lupus +
familial congenital mirror movements +
familial congenital palsy of trochlear nerve
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
familial hemiplegic migraine +
familial hemophagocytic lymphohistiocytosis type 1
familial hyperprolactinemia
familial infantile myoclonic epilepsy
familial isolated pituitary adenoma +
familial multiple fibrofolliculoma
familial multiple nevi flammei
familial partial epilepsy +
familial periodic paralysis +
familial pityriasis rubra pilaris
familial primary localized cutaneous amyloidosis +
familial pterygium of the conjunctiva
familial retinal arterial macroaneurysm
famililal cerebral cavernous malformations +
folinic acid-responsive seizures
generalized basaloid follicular hamartoma syndrome
Gerstmann-Straussler-Scheinker syndrome
GLUT1 deficiency syndrome +
glutaryl-CoA dehydrogenase deficiency
Griscelli syndrome type 1
hereditary cryohydrocytosis with reduced stomatin
hereditary generalized epilepsy +
hereditary hyperekplexia +
hereditary lipodystrophy +
hereditary mucoepithelial dysplasia
hereditary mucosal leukokeratosis +
hereditary neuromuscular disease +
hereditary palmoplantar keratoderma +
hereditary papulotranslucent acrokeratoderma
hereditary photodermatosis +
hereditary retinoblastoma
hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Hoyeraal-Hreidarsson syndrome
HSD10 mitochondrial disease +
hyperkeratosis-hyperpigmentation syndrome
hypermanganesemia with dystonia 2
hyperpigmentation with or without hypopigmentation, familial progressive +
inborn aminoacylase deficiency +
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
inflammatory poikiloderma with hair abnormalities and acral keratoses
inherited epidermolysis bullosa +
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 neuropsychiatric features
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 anhidrosis with normal sweat glands
isolated cerebellar hypoplasia/agenesis
isolated congenital adermatoglyphia
isolated hereditary congenital facial paralysis
isolated hyperchlorhidrosis
Johanson-Blizzard syndrome
juvenile hyaline fibromatosis
keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
keratosis pilaris atrophicans +
Landau-Kleffner syndrome +
large congenital melanocytic nevus
lateral meningocele syndrome
lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
leukoencephalopathy, megalencephalic +
lichen sclerosus et atrophicus +
linear nevus sebaceous syndrome
Linear nevus sebaceus syndrome
linear skin defects with multiple congenital anomalies
lissencephaly spectrum disorders +
macrocephaly/megalencephaly syndrome, autosomal recessive
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
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
multiple benign circumferential skin creases on limbs 1
multiple pterygium-malignant hyperthermia syndrome
myopathy caused by variation in POMGNT1 +
myopathy due to calsequestrin and SERCA1 protein overload
myopic macular degeneration
neonatal inflammatory skin and bowel disease +
neurocutaneous melanocytosis Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.
neurohypophyseal diabetes insipidus
nevoid basal cell carcinoma syndrome
nevus comedonicus syndrome
noise-induced hearing loss
nonsyndromic genetic hearing loss +
normal pressure hydrocephalus
NPHP3-related Meckel-like syndrome
obsessive-compulsive disorder
occipital pachygyria and polymicrogyria
oculocerebrocutaneous syndrome
oculocutaneous albinism +
orofaciodigital syndrome type 6
osteopathia striata-pigmentary dermopathy-white forelock syndrome
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
phakomatosis pigmentovascularis +
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
pigmented spindle cell nevus
poikiloderma with neutropenia
polyhydramnios, megalencephaly, and symptomatic epilepsy
pontocerebellar hypoplasia +
porokeratotic eccrine ostial and dermal duct nevus
PPP2R1A-related intellectual disability
Prader-Willi-like syndrome +
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
progressive external ophthalmoplegia +
progressive myoclonus epilepsy +
progressive osseous heteroplasia
proximal myopathy with extrapyramidal signs
PRRT2-associated paroxysmal movement disorder +
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 +
red-green color blindness
reticulate pigment disorder +
rhabdoid tumor predisposition syndrome 2
Ritscher-Schinzel syndrome +
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
SATB2 associated disorder +
scalp defects-postaxial polydactyly syndrome
Schinzel-Giedion syndrome
seborrhea-like dermatitis with psoriasiform elements
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
sensory organ benign neoplasm +
SERAC1-related neurological disorder +
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth +
severe congenital nemaline myopathy +
severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
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 +
spinocerebellar ataxia type 34
Subcutaneous Panniculitis-Like T-Cell Lymphoma
syndromic oculocutaneous albinism +
SYNGAP1-related developmental and epileptic encephalopathy
TH-deficient dopa-responsive dystonia
TUBB3-related tubulinopathy +
typical nemaline myopathy +
undetermined early-onset epileptic encephalopathy +
vasculitis, lymphocytic, nodular
von Hippel-Lindau disease
X-linked chondrodysplasia punctata 2
X-linked immunoneurologic disorder
X-linked intellectual disability +
X-linked reticulate pigmentary disorder
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