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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	MIM:617883
Parent Relationships	is_a Fanconi anemia is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance