| Metadata | |
|---|---|
| ID | DOID:0111898 |
| Name | CK syndrome |
| Definition | 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. https://pubmed.ncbi.nlm.nih.gov/19377476/, https://pubmed.ncbi.nlm.nih.gov/21129721/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:773329005 |
| Subsets |
DO_rare_slim |
| Synonyms |
X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome [EXACT] |
| Parent Relationships |