FB2026_03 , released September 17, 2026
Human Disease Model Report: cortical dysplasia, complex, with other brain malformations 13
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General Information
Name
cortical dysplasia, complex, with other brain malformations 13
FlyBase ID
FBhh0001597
Disease Ontology Term
Parent Disease
OMIM
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13; CDCBM13
Overview

This report describes cortical dysplasia, complex, with other brain malformations 13 (CDCBM13), which is one of several diseases associated with the human cytoplasmic dynein heavy chain gene DYNC1H1 (see MIM:600112). Information about fly models for this and related diseases can be found in the report 'DYNC1H1-related neurodevelopmental and neuromuscular disorders' (FBhh0001596).

[updated Aug. 2024 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: cortical dysplasia, complex, with other brain malformations 13
OMIM report

[CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13; CDCBM13](https://omim.org/entry/614563)

Human gene(s) implicated

[DYNEIN, CYTOPLASMIC 1, HEAVY CHAIN 1; DYNC1H1](https://omim.org/entry/600112)

Symptoms and phenotype

Complex cortical dysplasia with other brain malformations-13 (CDCBM13) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development. [from MIM:614563; 2024.08.27]

(OMIM, 2013-)
Genetics

Complex cortical dysplasia with other brain malformations-13 (CDCBM13) is caused by heterozygous mutation in the DYNC1H1 gene. [from MIM:614563; 2024.08.27]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
    Disease synonyms
    CDCBM13
    Ortholog Information
    Human gene(s) in FlyBase
      Other mammalian ortholog(s) used
        D. melanogaster Gene Information (0)
        Other Genes Used: Viral, Bacterial, Synthetic (0)
          Summary of Physical Interactions (0 groups)
          Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
          Alleles Representing Disease-Implicated Variants
          Genetic Tools, Stocks and Reagents
          Sources of Stocks
          Contact lab of origin for a reagent not available from a public stock center.
          Bloomington Stock Center Disease Page
          Related mammalian, viral, bacterial, or synthetic transgenes
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          Publicly Available Stocks
          Selected Drosophila transgenes
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          RNAi constructs available
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          Selected Drosophila classical alleles
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          References (3)