CK syndrome
Information
- Disease name
- CK syndrome
- Disease ID
- DOID:0111898
- Description
- "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." [url:https\://pubmed.ncbi.nlm.nih.gov/19377476/, url:https\://pubmed.ncbi.nlm.nih.gov/21129721/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:3146
- Cross Reference ID (Disease Ontology)
- MIM:300831
- Cross Reference ID (Disease Ontology)
- ORDO:251383
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:773329005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C3151781
- Exact Synonym (Disease Ontology)
- X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome