Hypomyelinating leukodystrophy 9

Definition

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

Also known as HLD9, hypomyelinating leukodystrophy type 9, leukodystrophy caused by mutation in RARS, leukodystrophy, hypomyelinating, type 9, RARS leukodystrophy, RARS-related autosomal recessive hypomyelinating leukodystrophy — per MONDO

Also identified as

• DOID 0060791 per MONDO
• OMIM 616140 per MONDO
• Orphanet 438114 per MONDO
• UMLS C4015323 per MONDO