| Metadata | |
|---|---|
| ID | DOID:0111378 |
| Name | fetal akinesia deformation sequence syndrome 2 |
| Definition | A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2. https://www.ncbi.nlm.nih.gov/pubmed/18179903 |
| Xrefs | |
| Synonyms |
FADS2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |