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Human Disease

CK syndrome

Term ID
DOID:0111898
Synonyms
  • 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. (2)
References
  • MIM:300831
  • ORDO:251383
  • SNOMEDCT_US_2023_03_01:773329005
  • UMLS_CUI:C3151781
Ontology
Human Disease   ( DOID:0111898 )
Relationships
is a type of
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Genes Involved
Zebrafish Models