Adenylosuccinate lyase deficiency
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(Orphanet:46)
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CACH syndrome
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(Orphanet:135)
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Combined oxidative phosphorylation defect type 11
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(Orphanet:324535)
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
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(OMIM:612164)
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Epileptic encephalopathy with global cerebral demyelination
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(Orphanet:353217)
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Fucosidosis
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(Orphanet:349)
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Hypomyelination with atrophy of basal ganglia and cerebellum
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(Orphanet:139441)
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Isolated sedoheptulokinase deficiency
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(ORPHA:440713)
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LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/ORHYPOGONADOTROPIC HYPOGONADISM
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(OMIM:614381)
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LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA
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(OMIM:608809)
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MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEMATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS
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(OMIM:601170)
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Microcephaly-capillary malformation syndrome
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(Orphanet:294016)
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Pelizaeus-Merzbacher-like due to GJC2 mutation
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(Orphanet:280282)
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Pontocerebellar hypoplasia, type 9
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(OMIM:615809)
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Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
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(Orphanet:369939)
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WAARDENBURG SYNDROME, TYPE 2E
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(OMIM:611584)
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