Cortical dysplasia, complex, with other brain malformations 9

Preferred Label : Cortical dysplasia, complex, with other brain malformations 9;

Symbol : CDCBM9;

CISMeF acronym : CDCBM9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-2 catenin gene (CTNNA2, 114025.0001);

Prefixed ID : #618174;

Details

Origin ID

618174;

UMLS CUI

C4748540;

Genes related to phenotype
- Catenin, alpha-2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- EEG abnormality [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Inability to walk [HPO term]
- Intellectual disability, severe [HPO term]
- Pachygyria [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Spastic tetraplegia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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