Fanconi anemia complementation group S

Term ID

DOID:0060979

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. https://pubmed.ncbi.nlm.nih.gov/29133208/

References

• MIM:617883

Ontology

Human Disease   ( DOID:0060979 )