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3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
achalasia microcephaly syndrome
acromesomelic dysplasia 2B
acrorenal syndrome, autosomal recessive
adult-onset autosomal dominant demyelinating leukodystrophy
Aicardi-Goutieres syndrome +
alkaline ceramidase 3 deficiency
alopecia-epilepsy-pyorrhea-intellectual disability syndrome
apparent mineralocorticoid excess
Ataxia - oculomotor apraxia type 1
Ataxia with vitamin E deficiency
Atypical progressive supranuclear palsy +
auditory neuropathy-optic atrophy syndrome
autosomal dominant deafness - onychodystrophy syndrome
autosomal dominant optic atrophy +
autosomal recessive Alport syndrome
autosomal recessive amelia
autosomal recessive brachyolmia +
autosomal recessive cerebellar ataxia +
autosomal recessive cerebral atrophy
autosomal recessive complex spastic paraplegia
autosomal recessive cutis laxa type 1 +
autosomal recessive cutis laxa type 2 +
autosomal recessive distal renal tubular acidosis +
autosomal recessive Ehlers-Danlos syndrome, vascular type
autosomal recessive Emery-Dreifuss muscular dystrophy
autosomal recessive epidermolytic ichthyosis
autosomal recessive faciodigitogenital syndrome
autosomal recessive familial Mediterranean fever
autosomal recessive hereditary demyelinating motor and sensory neuropathy
autosomal recessive humeroradial synostosis
autosomal recessive hypohidrotic ectodermal dysplasia
autosomal recessive hypophosphatemic rickets +
autosomal recessive inherited pseudoxanthoma elasticum
autosomal recessive intermediate Charcot-Marie-Tooth disease +
autosomal recessive Kenny-Caffey syndrome
autosomal recessive limb-girdle muscular dystrophy +
autosomal recessive multiple pterygium syndrome +
autosomal recessive non-syndromic intellectual disability +
autosomal recessive ocular albinism +
autosomal recessive omodysplasia
autosomal recessive optic atrophy
autosomal recessive osteopetrosis +
autosomal recessive palmoplantar keratoderma and congenital alopecia
autosomal recessive polycystic kidney disease
autosomal recessive primary microcephaly +
autosomal recessive progressive external ophthalmoplegia +
autosomal recessive proximal renal tubular acidosis
autosomal recessive Robinow syndrome
autosomal recessive severe congenital neutropenia +
autosomal recessive sideroblastic anemia +
autosomal recessive spastic ataxia +
autosomal recessive spastic paraplegia type 78
autosomal recessive spondylocostal dysostosis
autosomal recessive titinopathy +
Bartholin gland neoplasm +
beta-ketothiolase deficiency
bifid nose, autosomal recessive
brain abnormalities, neurodegeneration, and dysosteosclerosis
branched-chain keto acid dehydrogenase kinase deficiency
breast fibrocystic disease +
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
cardiomyopathy-hypotonia-lactic acidosis syndrome
cartilage-hair hypoplasia +
cerebrotendinous xanthomatosis
Classical progressive supranuclear palsy
cleft lip/palate-ectodermal dysplasia syndrome +
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Congenital neuronal ceroid lipofuscinosis +
congenital non-bullous ichthyosiform erythroderma
congenital prothrombin deficiency
congenital vertebral-cardiac-renal anomalies syndrome +
corneal-cerebellar syndrome
craniometaphyseal dysplasia, autosomal recessive
craniosynostosis syndrome, autosomal recessive +
cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
cystic leukoencephalopathy without megalencephaly
dacryocystitis-osteopoikilosis syndrome
disorder of pilosebaceous unit +
dyskeratosis congenita, autosomal recessive 5
Ehlers-Danlos syndrome, classic-like, 2
Ehlers-Danlos syndrome, kyphoscoliotic type 1
Ellis-van Creveld syndrome
eosinophil peroxidase deficiency
eyelid degenerative disorder +
familial adenomatous polyposis 2
familial apolipoprotein C-II deficiency
familial atypical multiple mole melanoma syndrome
familial lipoprotein lipase deficiency
familial tumoral calcinosis +
fatty acid hydroxylase-associated neurodegeneration
FLVCR1-related retinopathy with or without ataxia +
frontonasal dysplasia with alopecia and genital anomaly
Galloway-Mowat syndrome +
gastrointestinal ulceration, recurrent, with dysfunctional platelets
global developmental delay, progressive ataxia, and elevated glutamine
glycosylphosphatidylinositol biosynthesis defect 15
glycosylphosphatidylinositol biosynthesis defect 21
GM1 gangliosidosis type 1
gnb5-related intellectual disability-cardiac arrhythmia syndrome
growth hormone insensitivity with immune dysregulation 1, autosomal recessive
GUCY2D-related recessive retinopathy +
hair defect with photosensitivity and intellectual disability syndrome
hearing loss, autosomal recessive +
heart defects-limb shortening syndrome
hereditary sensory and autonomic neuropathy type 1 +
hereditary spastic paraplegia 2
hereditary spastic paraplegia 39
homocystinuria without methylmalonic aciduria +
Hutchinson-Gilford progeria syndrome
hyper-IgM syndrome type 2
hypercalcemia, infantile +
hypermanganesemia with dystonia 2
hyperphenylalaninemia due to DNAJC12 deficiency
hyperphenylalaninemia due to tetrahydrobiopterin deficiency +
hyperphosphatasia-intellectual disability syndrome
hypertelorism, microtia, facial clefting syndrome
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
hypomyelinating leukodystrophy 10
hypomyelinating leukodystrophy 12
hypomyelinating leukodystrophy 13
hypomyelinating leukodystrophy 5
hypomyelinating leukodystrophy 6
hypomyelinating leukodystrophy 9
hypomyelination with brain stem and spinal cord involvement and leg spasticity
hypoparathyroidism-retardation-dysmorphism syndrome
ichthyosis linearis circumflexa
ichthyosis prematurity syndrome
Imerslund-Grasbeck syndrome type 2
immunodeficiency-centromeric instability-facial anomalies syndrome +
IMPG1-related recessive retinopathy +
infantile cerebellar-retinal degeneration
inflammatory bowel disease, immunodeficiency, and encephalopathy
integumentary system benign neoplasm +
integumentary system cancer +
intellectual developmental disorder with short stature and behavioral abnormalities
intellectual developmental disorder, autosomal recessive 72
intellectual disability, autosomal recessive 53
isolated hyperchlorhidrosis
Johanson-Blizzard syndrome
joint laxity, short stature, and myopia
keratoderma hereditarium mutilans
Krabbe disease due to saposin A deficiency
Leber hereditary optic neuropathy
leukocyte adhesion deficiency +
leukodystrophy, childhood-onset, remitting
leukodystrophy, hypomyelinating, 15
leukodystrophy, hypomyelinating, 17
leukodystrophy, hypomyelinating, 20
leukodystrophy, hypomyelinating, 22
leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
leukodystrophy, hypomyelinating, 26, with chondrodysplasia
leukoencephalopathy with bilateral anterior temporal lobe cysts
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
leukoencephalopathy with calcifications and cysts
leukoencephalopathy with mild cerebellar ataxia and white matter edema
leukoencephalopathy with vanishing white matter +
leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
leukoencephalopathy, diffuse hereditary, with spheroids 1
leukoencephalopathy, porphyria-related
leukoencephalopathy-palmoplantar keratoderma syndrome
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
lipoprotein glomerulopathy
Lopes-Maciel-Rodan syndrome
lysosomal acid lipase deficiency +
mandibulofacial dysostosis with alopecia
megaconial type congenital muscular dystrophy
megalencephalic leukoencephalopathy with subcortical cysts
metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
metachromatic leukodystrophy +
mevalonate kinase deficiency +
microcephaly, growth restriction, and increased sister chromatid exchange 2
Microphthalmia - brain atrophy
microphthalmia with limb anomalies
microphthalmia-brain atrophy syndrome
mitochondrial pyruvate carrier deficiency
Mohr-Tranebjaerg syndrome
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
multiple congenital anomalies-hypotonia-seizures syndrome 2
multiple intestinal atresia
multiple mitochondrial dysfunctions syndrome 4
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
myopathy, congenital, progressive, with scoliosis
myotonia congenita, autosomal recessive
NAD(P)HX dehydratase deficiency
nephropathic cystinosis +
Nestor-Guillermo progeria syndrome
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
neurodegeneration, childhood-onset, with cerebellar atrophy
neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
neurodevelopmental disorder with cerebellar hypoplasia and spasticity
neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements
neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
neuronal ceroid-lipofuscinosis, dominant/recessive
neuronopathy, distal hereditary motor, autosomal recessive +
neutral lipid storage disease +
Niemann-Pick disease type A
Niemann-Pick disease type B
Niemann-Pick disease type C +
Nijmegen breakage syndrome
oculodentodigital dysplasia, autosomal recessive
odonto-onycho-dermal dysplasia
optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
osteoporosis-pseudoglioma syndrome
palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
pantothenate kinase-associated neurodegeneration +
paraneoplastic cutaneous syndrome +
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Pelizaeus-Merzbacher-like disease +
Pelizeaus-Merzbacher spectrum disorder +
permanent neonatal diabetes mellitus 1
peroxisome biogenesis disorder +
peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain +
persistent hyperplastic primary vitreous, autosomal recessive
POLR3-related leukodystrophy +
polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
progressive cavitating leukoencephalopathy
progressive encephalopathy with leukodystrophy due to DECR deficiency
Progressive epilepsy - intellectual disability, Finnish type
PROM1-related recessive retinopathy +
proteosome-associated autoinflammatory syndrome +
pseudohypoaldosteronism, type IB2, autosomal recessive
pseudoxanthoma elasticum (inherited or acquired) +
Rajab interstitial lung disease with brain calcifications 1
retinal dystrophy with leukodystrophy
rhizomelic chondrodysplasia punctata type 1
ribose-5-P isomerase deficiency
Roberts-SC phocomelia syndrome
RPE65-related recessive retinopathy +
SchC6pf-Schulz-Passarge syndrome
Schwartz-Jampel syndrome +
SCN4A-related myopathy, autosomal recessive +
sea-blue histiocyte syndrome
severe combined immunodeficiency due to CARMIL2 deficiency
short stature and microcephaly with genital anomalies
Shwachman-Diamond syndrome
Sjogren-Larsson syndrome A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.
skin appendage disorder +
skin fragility-woolly hair-palmoplantar keratoderma syndrome
Smith-Lemli-Opitz syndrome
spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Spastic paraplegia type 2
spastic tetraplegia and axial hypotonia, progressive
spinocerebellar ataxia 27A
Spinocerebellar ataxia with axonal neuropathy type 2
spondyloepiphyseal dysplasia tarda, autosomal recessive
sterol carrier protein 2 deficiency
subcutaneous tissue disorder +
temtamy preaxial brachydactyly syndrome
TH-deficient dopa-responsive dystonia
thiamine-responsive megaloblastic anemia syndrome
tremor-ataxia-central hypomyelination syndrome
Wolcott-Rallison syndrome
X-linked Charcot-Marie-Tooth disease type 5
X-linked ichthyosis syndrome +
Xeroderma pigmentosum complementation group B
Xeroderma pigmentosum complementation group D
Xeroderma pigmentosum complementation group F
Xeroderma pigmentosum complementation group G
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