Perrault syndrome 2

Definition

Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene.

Also known as HARS2 Perrault syndrome, Perrault syndrome 2, Perrault syndrome caused by mutation in HARS2, Perrault syndrome type 2 — per MONDO

Also identified as

• DOID 0061117 per MONDO
• OMIM 614926 per MONDO
• Orphanet 642976 per MONDO
• UMLS C3554105 per MONDO