Poirier-bienvenu neurodevelopmental syndrome

Preferred Label : Poirier-bienvenu neurodevelopmental syndrome;

Symbol : POBINDS;

CISMeF acronym : POBINDS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the casein kinase II, beta gene (CSNK2B, 115441.0001);

Prefixed ID : #618732;

Details

Origin ID

618732;

UMLS CUI

C5231482;

Genes related to phenotype
- Casein kinase II, beta [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Delayed ability to walk [HPO term]
- Downturned corners of mouth [HPO term]
- Generalized hypotonia [HPO term]
- Intellectual disability [HPO term]
- Mandibular prognathia [HPO term]
- Myoclonic seizure [HPO term]
- Open mouth [HPO term]
- Protruding tongue [HPO term]
- Smooth philtrum [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- POBINDS [MedDRA LLT]
- Poirier-Bienvenu neurodevelopmental syndrome [MedDRA Preferred Term]

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