Term Name: XFE progeroid syndrome
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 )

Relationships
is a type of: autosomal recessive disease progeroid syndrome