has material basis in germline mutation in ERCC4 syndromic disease XFE progeroid syndrome https://rarediseases.info.nih.gov/diseases/10628/xfe-progeroid-syndrome https://www.malacards.org/card/xfe_progeroid_syndrome NCIT:C173111 OMIM:610965 XFE progeroid syndrome DOID:0060590 XPF-ERCC1 progeroid syndrome MEDGEN:410064 UMLS:C1970416 MESH:C567043 XFEPS GARD:0027814 MONDO:0012590 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. progeroid syndrome