desmosterolosis

A lipid metabolism disorder characterized by multiple congenital anomalies, developmental delay, intellectual disability, and elevated levels of the cholesterol precursor desmosterol that has_material_basis_in homozygous or compound heterozygous mutation in th

A lipid metabolism disorder characterized by multiple congenital anomalies, developmental delay, intellectual disability, and elevated levels of the cholesterol precursor desmosterol that has_material_basis_in homozygous or compound heterozygous mutation in the DHCR24 gene on chromosome 1p32.

Signs and symptoms

• Elevated circulating desmosterol concentration
• Short stature
• Abnormal circulating cholesterol concentration
• Global developmental delay
• Spasticity
• Agenesis of corpus callosum
• Aplasia/Hypoplasia of the corpus callosum
• Ventriculomegaly
• Micrognathia
• Failure to thrive