Visualize Submit Comment
Metadata
ID DOID:0061154
PURL http://purl.obolibrary.org/obo/DOID_0061154 Copy
Name Mulvihill-Smith syndrome
Definition A progeroid syndrome that is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and impaired intellectual development.
https://pubmed.ncbi.nlm.nih.gov/19213035/
Xrefs

MIM:176690

ORDO:2959

Subsets

DO_rare_slim

Synonyms

progeroid short stature with pigmented nevi [EXACT]

Parent Relationships

is_a progeroid syndrome

Add an item to the term tracker