FB2026_02 , released June 18, 2026
FB2026_02 , released June 18, 2026
Human Disease Model Report: Kleefstra syndrome
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General Information
Name
Kleefstra syndrome
FlyBase ID
FBhh0000716
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the pair of diseases classified as Kleefstra syndrome (KLEFS). A listing of KLEFS subtypes, as defined by OMIM, may be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models. Kleefstra syndrome 1 is also classified in OMIM as a subtype of autosomal dominant intellectual disability (FBhh0000127).

[updated Feb. 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: Kleefstra syndrome
OMIM report
Symptoms and phenotype

Kleefstra syndrome is characterized by developmental delay and variable intellectual disability, with other symptoms characteristic of the specific subtype.

(OMIM, 2013-)
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
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
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (2)