FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term CK syndrome ID (Ontology) DOID:0111898 (Human Disease)
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.
Also Known As "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome"
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 Genes
 CK syndrome       1
 for disease ribbon | CK syndrome       1
 model of | CK syndrome       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease__
inherited metabolic disorder    |
 |__lipid metabolism disorder___|
                                CK syndrome  1 rec.
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Is a X-linked recessive disease
lipid metabolism disorder
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Synonyms
  • "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome" EXACT
Secondary IDs
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MIM:300831
ORDO:251383
SNOMEDCT_US_2023_03_01:773329005
UMLS_CUI:C3151781