Term Name: | fetal akinesia deformation sequence syndrome 1 |
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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 ) |