Cortical dysplasia, complex, with other brain malformations 3

Preferred Label : Cortical dysplasia, complex, with other brain malformations 3;

Symbol : CDCBM3;

CISMeF acronym : CDCBM3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the kinesin heavy chain member 2A (KIF2A, 602591.0001);

Prefixed ID : #615411;

Details

Origin ID

615411;

UMLS CUI

C3809414;

Currated CISMeF NLP mapping
- complex cortical dysplasia with other brain malformations 3 [DO Concept]
DO Cross reference
- complex cortical dysplasia with other brain malformations 3 [DO Concept]
Genes related to phenotype
- Kinesin family member 2a [OMIM gene]
HPO term(s)
- Agyria [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cortical dysplasia [HPO term]
- Global developmental delay [HPO term]
- Gray matter heterotopia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intrauterine growth retardation [HPO term]
- Lissencephaly [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Pachygyria [HPO term]
- Seizure [HPO term]
- Spastic tetraplegia [HPO term]
- Subcortical band heterotopia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- complex cortical dysplasia with other brain malformations 3 [DO Concept]

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