disease has major feature CNS hypomyelination leukodystrophy https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy https://www.malacards.org/card/hypomyelinating_leukodystrophy https://www.malacards.org/card/hypomyelinating_leukoencephalopathy https://www.malacards.org/card/leukodystrophy hypomyelinating leukodystrophy DOID:0060786 MEDGEN:6070 DOID:0050987 Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems. MONDO:0019046 DOID:10579 NCIT:C61253 OMIMPS:312080 ICD9:330.0 NORD:1367 MedDRA:10024381 icd11.foundation:468040251 hypomyelinating leukoencephalopathy UMLS:C0023520 NANDO:1200575 Orphanet:68356 Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy' GARD:0006895 SCTID:192781003 leukodystrophy, hypomyelinating NANDO:2200836 inherited neurodegenerative disorder