Ck syndrome - CISMeF

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;

Détails

Origin ID

300831;

UMLS CUI

C3151781;

Automatic exact mappings (from CISMeF team)
- CK syndrome [DO Concept]
Currated CISMeF NLP mapping
- CK syndrome [Disease (Nov.)]
- CK syndrome [ORDO Disease]
- CK syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- CK syndrome [DO Concept]
Genes related to phenotype
- Nad(p)h steroid dehydrogenase-like protein [OMIM gene]
HPO term(s)
- Abnormal cortical bone morphology [HPO term]
- Abnormal digit morphology [HPO term]
- Aggressive behavior [HPO term]
- Almond-shaped palpebral fissure [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Epicanthus [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hyperactivity [HPO term]
- Hyperlordosis [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Joint hypermobility [HPO term]
- Kyphosis [HPO term]
- Long face [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Narrow face [HPO term]
- Pachygyria [HPO term]
- Polymicrogyria [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent nasal bridge [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sleep disturbance [HPO term]
- Slender build [HPO term]
- Strabismus [HPO term]
- Upslanted palpebral fissure [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- CK syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CK syndrome [ORDO Disease]
- CK syndrome [Disease (Nov.)]
- CK syndrome [DO Concept]
- CK syndrome (disorder) [SNOMED CT concept]

Position du mot-clé dans l'(les) arborescence(s) :

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