Preferred Label : Ck syndrome;
Symbol : CKS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Mental retardation, X-linked, with thin body habitus and cortical malformation;
Description : CK syndrome (CKS) is an X-linked recessive disorder characterized by mild to severe
cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic
facial features, and thin body habitus. It is named after the first identified patient
(summary by McLarren et al., 2010).;
Inheritance : X-linked recessive;
Molecular basis : Caused by mutation in the NAD(P)H steroid dehydrogenase-like protein (NSDHL, 300275.0007);
Laboratory abnormalities : Normal serum cholesterol;
Prefixed ID : #300831;
Origin ID : 300831;
UMLS CUI : C3151781;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)