Term Name: | XFE progeroid syndrome |
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Synonyms: | XFEPS, XPF-ERCC1 progeroid syndrome |
Definition: | A progeroid 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. |
Ontology: | Human Disease [DOID:0060590] ( DOID:0060590 ) |