ATAXIA-TELANGIECTASIA-LIKE DISORDER 2
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(OMIM:615919)
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Autosomal recessive spastic paraplegia type 35
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(Orphanet:171629)
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Beta-propeller protein-associated neurodegeneration
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(Orphanet:329284)
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CLN7 disease
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(Orphanet:228366)
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Chédiak-Higashi syndrome
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(Orphanet:167)
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DIAMINOPENTANURIA
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(OMIM:222350)
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Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
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(Orphanet:352654)
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Gaucher disease type 3
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(Orphanet:77261)
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Hurler syndrome
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(Orphanet:93473)
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Infantile neuroaxonal dystrophy
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(Orphanet:35069)
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Intellectual deficit - cataracts - calcified pinnae - myopathy
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(Orphanet:3042)
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KRABBE DISEASE
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(OMIM:245200)
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KURU, SUSCEPTIBILITY TO
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(OMIM:245300)
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Krabbe disease
|
(Orphanet:487)
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LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
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(OMIM:615889)
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MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
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(OMIM:615157)
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Mucopolysaccharidosis type 1
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(Orphanet:579)
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Mucopolysaccharidosis type 2
|
(Orphanet:580)
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Mucopolysaccharidosis type 7
|
(Orphanet:584)
|
Multiple system atrophy
|
(Orphanet:102)
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
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(OMIM:610217)
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
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(OMIM:615643)
|
Neurodegenerative syndrome due to cerebral folate transport deficiency
|
(Orphanet:217382)
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Neuroferritinopathy
|
(Orphanet:157846)
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Nijmegen breakage syndrome
|
(Orphanet:647)
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Pantothenate kinase-associated neurodegeneration
|
(Orphanet:157850)
|
Phenylketonuria
|
(Orphanet:716)
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Pyruvate dehydrogenase phosphatase deficiency
|
(Orphanet:79246)
|
X-linked cerebral adrenoleukodystrophy
|
(Orphanet:139396)
|
Zellweger-like syndrome without peroxisomal anomalies
|
(Orphanet:50812)
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[DEL] LEIGH SYNDROME, X-LINKED
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(OMIM:308930)
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