Cortical dysplasia, complex, with other brain malformations 6

Preferred Label : Cortical dysplasia, complex, with other brain malformations 6;

Symbol : CDCBM6;

CISMeF acronym : CDCBM6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the beta-tubulin gene (TUBB, 191130.0001);

Prefixed ID : #615771;

Détails

Origin ID

615771;

UMLS CUI

C4014283;

CISMeF manual mappings
- complex cortical dysplasia with other brain malformations 6 [DO Concept]
DO Cross reference
- complex cortical dysplasia with other brain malformations 6 [DO Concept]
Genes related to phenotype
- Tubulin, beta [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital onset [HPO term]
- Cortical dysplasia [HPO term]
- Delayed speech and language development [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Polymicrogyria [HPO term]
- Retinal dysplasia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- complex cortical dysplasia with other brain malformations 6 [DO Concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients