Fetal akinesia deformation sequence 1

Definition

Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene.

Also known as FADS1, Pena-Shokeir syndrome type 1, Pena-Shokeir syndrome, type 1 — per MONDO

Also identified as

• DOID 0111377 per MONDO
• OMIM 208150 per MONDO
• Orphanet 994 per MONDO
• UMLS C1276035 per MONDO