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
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