Yes, diagnosis is based on general poor growth, developmental delay, and congenital malformations may prompt a blood test for 7-dehydrocholesterol. Currently none available unless requested by a physician or family. Clinical Outcome without Screening and Treatment Affected person shows continued failure to thrive and developmental delay. With correct diagnosis and treatment, many children with SLO can learn to walk, talk, and acquire basic living skills. Independent living is not likely.
Normal lifespan is possible with good care and nutrition.
The potential of treatment by supplying missing cholesterol to the diet of affected individuals is currently being investigated. A test is currently being developed that would use dried blood as its source.