XFE progeroid syndrome

Term ID

DOID:0060590

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. https://www.ncbi.nlm.nih.gov/pubmed/17183314

References

• GARD:10628
• MESH:C567043
• MIM:610965

Ontology

Human Disease   ( DOID:0060590 )