| Metadata | |
|---|---|
| ID | DOID:0111379 |
| Name | fetal akinesia deformation sequence syndrome 4 |
| Definition | A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2. https://www.ncbi.nlm.nih.gov/pubmed/30543681 |
| Xrefs | |
| Synonyms |
FADS4 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |