General Information of Disease (ID: DIS3YK8P)

Disease Name Cortical dysplasia, complex, with other brain malformations 10
Synonyms CDCBM10; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10
Disease Hierarchy
DISTLV37: Complex cortical dysplasia with other brain malformations
DIS3YK8P: Cortical dysplasia, complex, with other brain malformations 10
Disease Identifiers
MONDO ID
MONDO_0032866
UMLS CUI
C5231458
OMIM ID
618677
MedGen ID
1684859

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
APC2 TTSMK36 Strong Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
APC2 OTRH91CX Strong Autosomal recessive [1]
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References

1 Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. Am J Hum Genet. 2019 Oct 3;105(4):844-853. doi: 10.1016/j.ajhg.2019.08.013.