XFE progeroid syndrome

MONDO:0012590

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.

Also known as: XFE progeroid syndrome, XFEPS, XPF-ERCC1 progeroid syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with XFE progeroid syndrome itself.

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↑ Syndromic disease (7133) ↑ Progeroid syndrome (11)

Including sub-types (0) Tagged with XFE progeroid syndrome (0)

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