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CDCBM5
MCID: CRT073
MIFTS: 20
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Cortical Dysplasia, Complex, with Other Brain Malformations 5 (CDCBM5)
Categories:
Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Cortical Dysplasia, Complex, with Other Brain Malformations 5:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
variable severity onset in early infancy two unrelated patients have been reported (last curated april 2014) HPO:32
cortical dysplasia, complex, with other brain malformations 5:
Onset and clinical course variable expressivity Inheritance autosomal dominant inheritance Classifications: |
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UniProtKB/Swiss-Prot
:
75
Cortical dysplasia, complex, with other brain malformations 5: A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include seizures, global developmental delay, and various brain malformations such as a diffuse simplified gyral pattern with reduced volume of white matter, globular basal ganglia, thin and dysmorphic corpus callosum, mild brainstem hypoplasia with a flat pons, mild cerebellar vermis hypoplasia, and mildly enlarged posterior fossa.
MalaCards based summary : Cortical Dysplasia, Complex, with Other Brain Malformations 5, is also known as cdcbm5, and has symptoms including seizures An important gene associated with Cortical Dysplasia, Complex, with Other Brain Malformations 5 is TUBB2A (Tubulin Beta 2A Class IIa). Affiliated tissues include brain, pons and thalamus, and related phenotypes are seizures and global developmental delay Disease Ontology : 12 A complex cortical dysplasia with other brain malformations that has material basis in heterozygous mutation in the TUBB2A gene on chromosome 6p25.
Description from OMIM:
615763
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615763Human phenotypes related to Cortical Dysplasia, Complex, with Other Brain Malformations 5:32 (show all 9)
UMLS symptoms related to Cortical Dysplasia, Complex, with Other Brain Malformations 5:seizures |
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MalaCards organs/tissues related to Cortical Dysplasia, Complex, with Other Brain Malformations 5:41
Brain,
Pons,
Thalamus
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Genes related to Cortical Dysplasia, Complex, with Other Brain Malformations 5 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 5:75
ClinVar genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 5:6
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Search
GEO
for disease gene expression data for Cortical Dysplasia, Complex, with Other Brain Malformations 5.
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