Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

Definition

Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene.

Also known as endosteal sclerosis-cerebellar hypoplasia syndrome, HLD8, leukodystrophy caused by mutation in POLR3B, POLR3B leukodystrophy — per MONDO

Also identified as

• DOID 0060797 per MONDO
• MESH C535353 per MONDO
• OMIM 213002 per MONDO
• OMIM 614381 per MONDO
• Orphanet 85186 per MONDO
• UMLS C3280644 per MONDO