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
Disease Ontology
DOID:0111898
Mondo Disease Ontology
UMLS
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
50814 NSDHL NAD(P) dependent steroid dehydrogenase-like
The Human Phenotype Ontology
Displaying entries 1 - 10 of 42 in total
HPO ID HPO Term
HP:0000750 Delayed speech and language development
HP:0007874 Almond-shaped palpebral fissure
HP:0000358 Posteriorly rotated ears
HP:0001533 Slender build
HP:0000275 Narrow face
HP:0001263 Global developmental delay
HP:0002538 Abnormal cerebral cortex morphology
HP:0000678 Dental crowding
HP:0000252 Microcephaly
HP:0001302 Pachygyria
Displaying 1 entry
Gene ID Gene Symbol Description
50814 NSDHL NAD(P) dependent steroid dehydrogenase-like

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024