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 )

Relationships
is a type of: autosomal recessive disease Fanconi anemia