Catalog

Smith-Lemli-Opitz syndrome

No MMS code

Link to WHO Definition

Smith-Lemli-Opitz syndrome – http://id.who.int/icd/entity/1231469858

Smith-Lemli-Opitz syndrome is an inborn error of cholesterol synthesis characterised by multiple congenital anomalies, intellectual deficit, and behavioural problems (multiple autistic traits, hyperactivity, self-injurious behaviour and sleep disturbances).