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 ...