autosomal recessive intellectual developmental disorder 3

Summary
Definition
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13.
Super Class
autosomal recessive intellectual developmental disorder
Disease Ontology
DOID:0081179
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54862 CC2D1A coiled-coil and C2 domain containing 1A
Displaying 1 entry
Gene ID Gene Symbol Description Source
212139 Cc2d1a coiled-coil and C2 domain containing 1A

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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