Cortical dysplasia, complex, with other brain malformations 10

Preferred Label : Cortical dysplasia, complex, with other brain malformations 10;

Symbol : CDCBM10;

CISMeF acronym : CDCBM10;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the APC regulator of WNT signaling pathway 2 gene (APC2, 612034.0002);

Prefixed ID : #618677;

Details

Origin ID

618677;

UMLS CUI

C5231458;

Genes related to phenotype
- Apc2 regulator of wnt signaling pathway 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Delayed fine motor development [HPO term]
- Delayed gross motor development [HPO term]
- Delayed social development [HPO term]
- Delayed speech and language development [HPO term]
- Generalized-onset seizure [HPO term]
- Global developmental delay [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the pons [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Infantile onset [HPO term]
- Infantile spasms [HPO term]
- Intellectual disability, severe [HPO term]
- Lissencephaly [HPO term]
- Myoclonic seizure [HPO term]
- Periventricular ribbonlike heterotopia [HPO term]
- Spastic tetraplegia [HPO term]
- Thick cerebral cortex [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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