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CK syndrome
Summary
- Synonym
-
- X-linked intellectual disability-microcephaly-cortical malformation-thin habitus 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.
- Super Class
- X-linked recessive disease lipid metabolism disorder
External Links
- Disease Ontology
- DOID:0111898
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002381 | Aphasia |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0003107 | Abnormal circulating cholesterol concentration |
| HP:0000737 | Irritability |
| HP:0000308 | Microretrognathia |
| HP:0001382 | Joint hypermobility |
| HP:0010511 | Long toe |
| HP:0000752 | Hyperactivity |
| HP:0000426 | Prominent nasal bridge |
| HP:0002126 | Polymicrogyria |
