syndromic X-linked intellectual disability 94

Summary
Synonym
  • MRX94
  • MRXS29
  • mental retardation, X-linked 94
  • syndromic X-linked intellectual disability due to GRIA3 anomalies
  • syndromic X-linked mental retardation 29
  • syndromic X-linked mental retardation Wu type
Definition
A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25.
Super Class
syndromic X-linked intellectual disability
External Links
Disease Ontology
DOID:0060823
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying entries 1 - 10 of 61 in total
Gene ID Gene Symbol Description Source
38 ACAT1 acetyl-CoA acetyltransferase 1
50 ACO2 aconitase 2
51 ACOX1 acyl-CoA oxidase 1
414 ARSD arylsulfatase D
1605 DAG1 dystroglycan 1
1629 DBT dihydrolipoamide branched chain transacylase E2
1727 CYB5R3 cytochrome b5 reductase 3
1798 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
1892 ECHS1 enoyl-CoA hydratase, short chain 1
2182 ACSL4 acyl-CoA synthetase long chain family member 4

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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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