XFE progeroid syndrome (DOID:0060590)
Alliance: disease page
Synonyms: XFEPS; XPF-ERCC1 progeroid syndrome
Alt IDs: OMIM:610965, MESH:C567043
Definition: A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13.