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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

Xenbase Genes : ercc4

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012590 - XFE progeroid syndrome

OMIM:
OMIM:610965 - XFE PROGEROID SYNDROME; XFEPS

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndrome (is_a)