Metadata | |
---|---|
ID | DOID:0111377 |
Name | fetal akinesia deformation sequence syndrome 1 |
Definition | A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3. https://www.ncbi.nlm.nih.gov/pubmed/25537362 |
Xrefs | |
Synonyms |
FADS1 [EXACT] |
Parent Relationships |