DO_rare_slim has material basis in X-linked recessive disease CK syndrome SNOMEDCT_US_2025_09_01:773329005 A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28. DOID:0111898 disease_ontology UMLS_CUI:C3151781 MIM:300831 ORDO:251383 X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome lipid metabolism disorder X-linked recessive inheritance