autosomal dominant intellectual developmental disorder 11

Summary
Synonym
  • MRD11
  • autosomal dominant mental retardation 11
  • autosomal dominant non-syndromic intellectual disability 11
Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23.
Super Class
autosomal dominant intellectual developmental disorder
Disease Ontology
DOID:0070041
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2036 EPB41L1 erythrocyte membrane protein band 4.1 like 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
13821 Epb41l1 erythrocyte membrane protein band 4.1 like 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
59317 Epb41l1 erythrocyte membrane protein band 4.1-like 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
37205 cora coracle

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024