Pontocerebellar hypoplasia type 1A

Definition

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.

Also known as non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1, VRK1 non-syndromic pontocerebellar hypoplasia — per MONDO

Also identified as

• DOID 0060265 per MONDO
• OMIM 607596 per MONDO
• UMLS C1843504 per MONDO