XFE progeroid syndrome
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0015333
progeroid syndrome
is_a
XFE progeroid syndrome
exact
XFEPS
exact
XPF-ERCC1 progeroid syndrome
exact
SPCC970.01