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adult neuronal ceroid lipofuscinosis +
adult polyglucosan body disease
adult-onset autosomal dominant demyelinating leukodystrophy
Aicardi-Goutieres syndrome +
alkaline ceramidase 3 deficiency
apparent mineralocorticoid excess
Ataxia - oculomotor apraxia type 1
Ataxia with vitamin E deficiency
attenuated Chédiak-Higashi syndrome
Atypical progressive supranuclear palsy +
autosomal dominant optic atrophy +
autosomal recessive ataxia due to PEX10 deficiency
autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome +
autosomal recessive cerebellar ataxia with late-onset spasticity
autosomal recessive optic atrophy
bile acid CoA ligase deficiency and defective amidation
cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
cerebrotendinous xanthomatosis Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.
Charcot-Marie-Tooth disease +
Charcot-Marie-Tooth disease type 5
Classical progressive supranuclear palsy
coenzyme Q10 deficiency +
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Congenital neuronal ceroid lipofuscinosis +
congenital trigeminal anesthesia
corneal-cerebellar syndrome
cystic leukoencephalopathy without megalencephaly
distal hereditary motor neuropathy +
EMILIN-1-related connective tissue disease
encephalocraniocutaneous lipomatosis
eyelid degenerative disorder +
familial amyloid neuropathy +
familial angiolipomatosis
familial apolipoprotein C-II deficiency
familial episodic pain syndrome +
familial isolated deficiency of vitamin E
familial lipoprotein lipase deficiency
familial multiple lipomatosis
familial recurrent peripheral facial palsy
fatty acid hydroxylase-associated neurodegeneration
fibrodysplasia ossificans progressiva
FLVCR1-related retinopathy with or without ataxia +
giant axonal neuropathy +
GM1 gangliosidosis type 1
hemangioma of subcutaneous tissue
hereditary motor and sensory neuropathy +
hereditary motor and sensory neuropathy, Okinawa type +
hereditary neuropathy with liability to pressure palsies
hereditary sensory and autonomic neuropathy +
hereditary sensory and autonomic neuropathy with spastic paraplegia
hereditary spastic paraplegia 2
hereditary spastic paraplegia 39
homocystinuria due to methylene tetrahydrofolate reductase deficiency
hypercholanemia, familial +
hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
hyperphosphatasia-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
infantile axonal neuropathy
infantile cerebellar-retinal degeneration
infantile neuronal ceroid lipofuscinosis
intellectual disability, autosomal recessive 53
isolated anhidrosis with normal sweat glands
juvenile neuronal ceroid lipofuscinosis +
Krabbe disease due to saposin A deficiency
Leber hereditary optic neuropathy
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 mild cerebellar ataxia and white matter edema
leukoencephalopathy with vanishing white matter +
leukoencephalopathy, diffuse hereditary, with spheroids 1
leukoencephalopathy, porphyria-related
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
lipoprotein glomerulopathy
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
lysosomal acid lipase deficiency +
megalencephalic leukoencephalopathy with subcortical cysts
metachromatic leukodystrophy +
methylmalonic aciduria and homocystinuria type cblC
mevalonate kinase deficiency +
Microphthalmia - brain atrophy
microphthalmia-brain atrophy syndrome
mitochondrial DNA depletion syndrome 4a
mitochondrial neurogastrointestinal encephalomyopathy
Mohr-Tranebjaerg syndrome
multiple congenital anomalies-hypotonia-seizures syndrome 2
multiple mitochondrial dysfunctions syndrome 4
multiple symmetric lipomatosis
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
neurodegeneration with brain iron accumulation 2A
neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
neuronal ceroid-lipofuscinosis, dominant/recessive
neuropathy with hearing impairment
neuropathy, congenital hypomelinating +
neuropathy, hereditary sensory and autonomic, type IId
Niemann-Pick disease type B
nodular nonsuppurative panniculitis
optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
ornithine aminotransferase deficiency
osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Pelizaeus-Merzbacher-like disease +
Pelizeaus-Merzbacher spectrum disorder +
peripheral motor neuropathy, childhood-onset, biotin-responsive
peroxisome biogenesis disorder +
peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain +
POLR3-related leukodystrophy +
polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
progressive cavitating leukoencephalopathy
progressive demyelinating neuropathy with bilateral striatal necrosis
progressive encephalopathy with leukodystrophy due to DECR deficiency
Progressive epilepsy - intellectual disability, Finnish type
proximal spinal muscular atrophy +
PRPS1 deficiency disorder
pyruvate dehydrogenase deficiency +
recessive mitochondrial ataxia syndrome
rhizomelic chondrodysplasia punctata type 1
ribose-5-P isomerase deficiency
Roch-Leri mesosomatous lipomatosis
sea-blue histiocyte syndrome
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +
Smith-Lemli-Opitz syndrome
sodium channelopathy-related small fiber neuropathy
spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Spastic paraplegia type 2
spinocerebellar ataxia 27A
Spinocerebellar ataxia with axonal neuropathy type 2
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
sterol carrier protein 2 deficiency
tremor-ataxia-central hypomyelination syndrome
X-linked Charcot-Marie-Tooth disease type 5
Xeroderma pigmentosum complementation group B
Xeroderma pigmentosum complementation group D
Xeroderma pigmentosum complementation group F
Xeroderma pigmentosum complementation group G
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