autosomal recessive intellectual developmental disorder 61

Summary
Synonym
  • Alwadei syndrome
  • autosomal recessive intellectual developmental disorder-61
  • autosomal recessive mental retardation 61
Definition
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13.
Super Class
autosomal recessive intellectual developmental disorder
Disease Ontology
DOID:0080239
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9853 RUSC2 RUN and SH3 domain containing 2

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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