CK syndrome

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CK syndrome2016-11-25T12:09:25+00:00

CK syndrome 

PAEDIATRICS

An X-linked disorder (OMIM:300831) characterised by mild to severe cognitive impairment, seizures, microcephaly, malformations of cerebral cortex, facial dysmorphism, and thin body habitus.  

Molecular pathology Defects of NSDHL, which encodes a protein involved in cholesterol synthesis, cause CK syndrome. 

Synonym Mental retardation—X-linked—with thin body habitus and cortical malformation

References http://www.uniprot.org/uniprot/Q15738

http://www.omim.org/entry/300831

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