Term Name:	desmosterolosis
Synonyms:
Definition:	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.
Ontology:	Human Disease [DOID:0070654]   ( DOID:0070654 )