Disease association ontology term - MONDO:0012590 - XFE progeroid syndrome
Term summary
- ID
- MONDO:0012590
- Name
- XFE progeroid syndrome
- Ontology or CV name
- Disease association
- Definition
- 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.
