Leucodystrophy

Parents (3)

• 80690008Degenerative disease of the central nervous system disorder
• 299735001Neurological lesion finding
• 386033004Neuropathy disorder

Children (31)

• 12089330004H leucodystrophy disorder
• 65389002Adrenoleucodystrophy disorder
• 448054001Adult onset autosomal dominant leucodystrophy disorder
• 230312006Aicardi Goutieres syndrome disorder
• 81854007Alexander disease disorder
• 1237515001Alkaline ceramidase 3 deficiency disorder
• 1172595004C11ORF73-related autosomal recessive hypomyelinating leucodystrophy disorder
• 63246000Cholestanol storage disease disorder
• 733044009Dermatoleukodystrophy disorder
• 192782005Galactosylceramide beta-galactosidase deficiency disorder
• 1300130001Hypomyelination of early myelinating structures disorder
• 777999008Hypomyelination with brain stem and spinal cord involvement and leg spasticity disorder
• 1300128003MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome disorder
• 396338004Metachromatic leukodystrophy disorder
• 1208621008Multiple mitochondrial dysfunctions syndrome type 4 disorder
• 1279890001Multiple mitochondrial dysfunctions syndrome type 5 disorder
• 785298001Muscle eye brain disease with bilateral multicystic leukodystrophy disorder
• 1217379007NKX6-2-related autosomal recessive hypomyelinating leucodystrophy disorder
• 1220598005Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy disorder
• 717042001Pelizaeus Merzbacher like disease disorder
• 64855000Pelizaeus-Merzbacher disease disorder
• 765325002Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease disorder
• 25362006Phytanic acid storage disease disorder
• 1220600004RARS-related autosomal recessive hypomyelinating leucodystrophy disorder
• 715794009RAVINE syndrome disorder
• 712637001RNA polymerase III-related leucodystrophy disorder
• 80544005Spongy degeneration of central nervous system disorder
• 769065000TUBB4A-related leukodystrophy disorder
• 1187249005VPS11-related autosomal recessive hypomyelinating leucodystrophy disorder
• 447351004Vanishing white matter disease disorder
• 723622007X-linked spastic paraplegia type 2 disorder