2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY
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(OMIM:616034)
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ATAXIA-OCULOMOTOR APRAXIA 4
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(OMIM:616267)
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Aicardi-Goutières syndrome
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(Orphanet:51)
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BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET
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(OMIM:114100)
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CADASIL
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(Orphanet:136)
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CADDS
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(Orphanet:369942)
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DK1-CDG
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(Orphanet:91131)
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Dihydropyrimidine dehydrogenase deficiency
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(Orphanet:1675)
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
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(OMIM:614959)
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Familial acute necrotizing encephalopathy
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(Orphanet:88619)
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Familial hemophagocytic lymphohistiocytosis
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(Orphanet:540)
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HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1
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(OMIM:267700)
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HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
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(OMIM:603553)
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Hereditary motor and sensory neuropathy, Okinawa type
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(Orphanet:90117)
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Infantile-onset ascending hereditary spastic paralysis
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(Orphanet:293168)
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Lethal ataxia with deafness and optic atrophy
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(Orphanet:1187)
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METACHROMATIC LEUKODYSTROPHY
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(OMIM:250100)
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Maternally-inherited Leigh syndrome
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(Orphanet:255210)
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Micrencephaly - corpus callosum agenesis - abnormal genitalia
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(Orphanet:2508)
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Multiple acyl-CoA dehydrogenase deficiency
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(Orphanet:26791)
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NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY
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(OMIM:256720)
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Pyruvate dehydrogenase E1-alpha deficiency
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(Orphanet:79243)
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Pyruvate dehydrogenase E3-binding protein deficiency
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(Orphanet:255182)
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Severe X-linked mitochondrial encephalomyopathy
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(Orphanet:238329)
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Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
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(Orphanet:369939)
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X-linked spastic paraplegia type 16
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(Orphanet:100997)
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