| Metadata | |
|---|---|
| ID | DOID:0060590 |
| Name | XFE 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
XFEPS [EXACT] XPF-ERCC1 progeroid syndrome [EXACT] |
| Parent Relationships |
is_a progeroid syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |