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mandibular hypoplasia-deafness-progeroid syndrome

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Uniprot Description An autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, metabolic abnormalities including insulin resistance and diabetes mellitus, sclerodermatous skin, and a facial appearance characterized by mandibular hypoplasia. Sensorineural deafness occurs late in the first or second decades of life.
Mondo Term and Equivalent IDs
MONDO:0014157:  mandibular hypoplasia-deafness-progeroid syndrome
GARD:0010989: 
Orphanet:363649: 
UMLS:C3715192: