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

• OMIM:300831
• ORDO:251383
• SNOMEDCT_US_2023_03_01:773329005
• UMLS_CUI:C3151781

Ontology

Human Disease   ( DOID:0111898 )