Cortical dysplasia, complex, with other brain malformations 14a (bilateral frontoparietal)

Preferred Label : Cortical dysplasia, complex, with other brain malformations 14a (bilateral frontoparietal);

Symbol : CDCBM14A;

CISMeF acronym : BFPP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebellar ataxia with neuronal migration defect; Polymicrogyria, bilateral frontoparietal; BFPP;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the G protein-coupled receptor 56 gene (GPR56, 604110.0001);

Prefixed ID : #606854;

Details

Origin ID

606854;

UMLS CUI

C1847352;

Automatic exact mappings (from CISMeF team)
- ADGRG1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Polymicrogyria [ORDO Disease]
Currated CISMeF NLP mapping
- Bilateral Frontoparietal Polymicrogyria [NCIt concept]
- Bilateral frontoparietal polymicrogyria [ICD-11 More detail]
- Bilateral frontoparietal polymicrogyria [ORDO Disease]
- Bilateral frontoparietal polymicrogyria (disorder) [SNOMED CT concept]
- bilateral frontoparietal polymicrogyria [DO Concept]
- polymicrogyria, bilateral frontoparietal [MeSH concept]
- polymicrogyria, bilateral frontoparietal [MeSH Supplementary Concept]
DO Cross reference
- bilateral frontoparietal polymicrogyria [DO Concept]
Genes related to phenotype
- Adhesion g protein-coupled receptor g1 [OMIM gene]
HPO term(s)
- Ankle clonus [HPO term]
- Ankle or knee clonus [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Broad-based gait [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral dysmyelination [HPO term]
- Congenital onset [HPO term]
- Dysmetria [HPO term]
- Esotropia [HPO term]
- Exotropia [HPO term]
- Frontal polymicrogyria [HPO term]
- Frontoparietal polymicrogyria [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the pons [HPO term]
- Intellectual disability [HPO term]
- Nystagmus [HPO term]
- Perisylvian polymicrogyria [HPO term]
- Seizure [HPO term]
- Truncal ataxia [HPO term]
- Ventriculomegaly [HPO term]
Not associated HPO term(s)
- Abnormal facial shape [HPO term]
ORDO concept(s)
- Bilateral frontoparietal polymicrogyria [ORDO Disease]
- Bilateral polymicrogyria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bilateral Frontoparietal Polymicrogyria [NCIt concept]
- Bilateral frontoparietal polymicrogyria [ORDO Disease]
- Bilateral frontoparietal polymicrogyria (disorder) [SNOMED CT concept]
- polymicrogyria, bilateral frontoparietal [MeSH Supplementary Concept]
- polymicrogyria, bilateral frontoparietal [MeSH concept]

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