OBO ID: DOID:0111898
Term Name: CK syndrome Search Ontology:
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:
  • OMIM:300831
  • ORDO:251383
  • SNOMEDCT_US_2023_03_01:773329005
  • UMLS_CUI:C3151781
Ontology: Human Disease   ( DOID:0111898 )
Relationships
is a type of:
OTHER CK syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NSDHL CK syndrome 300831
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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