Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features ...
Introduction. Smith-Lemli-Opitz syndrome is an autosomal recessively inherited disorder with equal preponderance in males and females. The disease incidence is very ...
Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" represents the first letters of the ...
Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies (MCA)/mental retardation (MR) syndrome caused by a defect in cholesterol synthesis.
SLOS phenotype and symptoms. SLOS can present itself differently in different cases, depending on the severity of the mutation and other factors.
It is possible that the main title of the report Smith Lemli Opitz Syndrome is not the name you expected. Please check the synonyms listing to find the ...
Opitz syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
What is Smith-Lemli-Opitz Syndrome? Smith-Lemli-Opitz syndrome, or SLO syndrome, is an inherited disorder in which the body's ability to make cholesterol is impaired ...
Families and supporters of individuals with Smith-Lemli-Opitz Syndrome are encouraged to register NOW for the SLO Family Medical Conference, ...
SLOS is a metabolic disorder caused by a mutation in the DHCR7 (7-dehydrocholesterol reductase) gene on chromosome 11. This gene codes for an enzyme that is involved ...