Adenylosuccinate lyase deficiency
|
(Orphanet:46)
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CADDS
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(Orphanet:369942)
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Charcot-Marie-Tooth disease type 4A
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(Orphanet:99948)
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Combined oxidative phosphorylation defect type 11
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(Orphanet:324535)
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Congenital brain dysgenesis due to glutamine synthetase deficiency
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(Orphanet:71278)
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Congenital cataract-hearing loss-severe developmental delay syndrome
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(Orphanet:300313)
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
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(OMIM:616339)
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
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(OMIM:613477)
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Hypomyelination with brain stem and spinal cord involvement and leg spasticity
|
(Orphanet:363412)
|
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
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(OMIM:615966)
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LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA
|
(OMIM:608809)
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Leukoencephalopathy - ataxia - hypodontia - hypomyelination
|
(Orphanet:137639)
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Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation
|
(Orphanet:137898)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
|
(OMIM:616158)
|
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY
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(OMIM:615760)
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MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEMATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS
|
(OMIM:601170)
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Odontoleukodystrophy
|
(Orphanet:77295)
|
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
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(OMIM:614883)
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PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
|
(OMIM:614501)
|
Phenylketonuria
|
(Orphanet:716)
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Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
|
(Orphanet:369939)
|