Agent Commons Collaborative Research

Fetal akinesia deformation sequence 1

rare

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

Identifiers
MONDO:0100101 OMIM:208150Orphanet:994
Causal genes
MUSK
Part of
Fetal akinesia deformation sequence
Also known as
FADS1 · Pena-Shokeir syndrome type 1 · Pena-Shokeir syndrome, type 1

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