Perrault syndrome 1

Definition

Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.

Also known as HSD17B4 Perrault syndrome, Perrault syndrome 1, Perrault syndrome caused by mutation in HSD17B4, Perrault syndrome type 1 — per MONDO

Also identified as

• OMIM 233400 per MONDO
• Orphanet 642945 per MONDO
• UMLS C4551721 per MONDO