| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |