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CK syndrome
Genetics:
- associated with defects in NSDHL
Clinical manifestations:
- mild to severe cognitive impairment
- seizures
- microcephaly
- cerebral cortical malformations
- dysmorphic facial features
- thin body habitus
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 300831
References
OMIM :accession 300831