Hypomyelinating leukodystrophy 11

Definition

Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene.

Also known as HLD11, hypomyelinating leukodystrophy type 11, leukodystrophy caused by mutation in POLR1C, leukodystrophy, hypomyelinating, type 11, POLR1C leukodystrophy — per MONDO

Also identified as

• DOID 0060792 per MONDO
• OMIM 616494 per MONDO
• UMLS C4225305 per MONDO