DISEASES

Disease-gene associations mined from literature

Human genes for XFE progeroid syndrome

XFE progeroid syndrome [DOID:0060590]

A 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.

Synonyms:  XFE progeroid syndrome,  DOID:0060590,  XFE progeroid disease,  XFE progeroid disorder,  XFE progeroid syndromes ...