autosomal recessive intellectual developmental disorder 7

Summary
Definition
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22.
Super Class
autosomal recessive intellectual developmental disorder
External Links
Disease Ontology
DOID:0081183
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7991 TUSC3 tumor suppressor candidate 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
34137 Ostgamma Oligosaccharide transferase gamma subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
854252 OST3 dolichyl-diphosphooligosaccharide--protein glycotransferase OST3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q13454 Tumor suppressor candidate 3
The Human Phenotype Ontology
Displaying all 6 entries
HPO ID HPO Term
HP:0001263 Global developmental delay
HP:0000252 Microcephaly
HP:0011463 Childhood onset
HP:0000007 Autosomal recessive inheritance
HP:0010864 Intellectual disability, severe
HP:0001249 Intellectual disability
Displaying 1 entry
Gene ID Gene Symbol Description
7991 TUSC3 tumor suppressor candidate 3

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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: August 19, 2024