Cortical dysplasia, complex, with other brain malformations 4

Preferred Label : Cortical dysplasia, complex, with other brain malformations 4;

Symbol : CDCBM4;

CISMeF acronym : CDCBM4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tubulin, gamma-1 gene (TUBG1, 191135.0001);

Prefixed ID : #615412;

Details

Origin ID

615412;

UMLS CUI

C3809420;

Currated CISMeF NLP mapping
- complex cortical dysplasia with other brain malformations 4 [DO Concept]
DO Cross reference
- complex cortical dysplasia with other brain malformations 4 [DO Concept]
Genes related to phenotype
- Tubulin, gamma-1 [OMIM gene]
HPO term(s)
- Agyria [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Cortical dysplasia [HPO term]
- Global developmental delay [HPO term]
- Gray matter heterotopia [HPO term]
- Microcephaly [HPO term]
- Pachygyria [HPO term]
- Seizure [HPO term]
- Spastic tetraplegia [HPO term]
- Subcortical band heterotopia [HPO term]
- Variable expressivity [HPO term]
See also inter- (CISMeF)
- TUBG1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- complex cortical dysplasia with other brain malformations 4 [DO Concept]

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