Term Name: fetal akinesia deformation sequence syndrome 1
Synonyms: FADS1
Definition: A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3.
Ontology: Human Disease [DOID:0111377]   ( DOID:0111377 )

Relationships
is a type of: autosomal recessive disease fetal akinesia deformation sequence syndrome