| Metadata | |
|---|---|
| ID | DOID:0060979 |
| Name | Fanconi anemia complementation group S |
| Definition | A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21. https://pubmed.ncbi.nlm.nih.gov/29133208/ |
| Xrefs | |
| Parent Relationships |
is_a Fanconi anemia |