Term Name: | Fanconi anemia complementation group S |
---|---|
Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0060979] ( DOID:0060979 ) |