Hypomyelinating leukodystrophy 4

Definition

Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.

Also known as HLD4, HSPD1 leukodystrophy, hypomyelinating leukodystrophy type 4, leukodystrophy caused by mutation in HSPD1, leukodystrophy, hypomyelinating, type 4, MitCHAP60 disease, mitochondrial HSP60 chaperonopathy, Pelizaeus-Merzbacher-like disease due to HSPD1 mutation — per MONDO

Also identified as

• DOID 0060789 per MONDO
• MESH C567390 per MONDO
• OMIM 612233 per MONDO
• Orphanet 280288 per MONDO
• UMLS C2677109 per MONDO