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 21 - 30 of 61 in total
Gene ID Gene Symbol Description Source
4669 NAGLU N-acetyl-alpha-glucosaminidase
5160 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
5279 PIGC phosphatidylinositol glycan anchor biosynthesis class C
5538 PPT1 palmitoyl-protein thioesterase 1
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
6487 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
7355 SLC35A2 solute carrier family 35 member A2
7915 ALDH5A1 aldehyde dehydrogenase 5 family member A1
7991 TUSC3 tumor suppressor candidate 3
8802 SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha

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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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