Cortical dysplasia, complex, with other brain malformations 14b (bilateral perisylvian)

Preferred Label : Cortical dysplasia, complex, with other brain malformations 14b (bilateral perisylvian);

Symbol : CDCBM14B;

CISMeF acronym : BPPR; PMGR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PMGR; Polymicrogyria, bilateral perisylvian, autosomal recessive; BPPR;

Prefixed ID : #615752;

Détails

Origin ID

615752;

UMLS CUI

C3810405;

Automatic exact mappings (from CISMeF team)
- ADGRG1 wt Allele [NCIt concept]
Genes related to phenotype
- Adhesion g protein-coupled receptor g1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Enlarged sylvian cistern [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Language impairment [HPO term]
- Perisylvian polymicrogyria [HPO term]
- Seizure [HPO term]
Not associated HPO term(s)
- Motor delay [HPO term]
ORDO concept(s)
- Bilateral perisylvian polymicrogyria [ORDO Disease]
- Bilateral polymicrogyria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Bilateral perisylvian polymicrogyria [ORDO Disease]

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

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