Summary Literature (0)

DOID:0060590 - XFE progeroid syndrome

Disease Ontology Definition:A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13.

Synonyms: XFEPS, XPF-ERCC1 progeroid syndrome,

Echinobase Genes : ercc4


OMIM:

MIM:610965 - xfe progeroid syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee