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 41 - 50 of 61 in total
Gene ID Gene Symbol Description Source
27315 PGAP2 post-GPI attachment to proteins 2
29925 GMPPB GDP-mannose pyrophosphorylase B
29954 POMT2 protein O-mannosyltransferase 2
54187 NANS N-acetylneuraminate synthase
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
55650 PIGV phosphatidylinositol glycan anchor biosynthesis class V
79143 MBOAT7 membrane bound O-acyltransferase domain containing 7
79147 FKRP fukutin related protein
79644 SRD5A3 steroid 5 alpha-reductase 3
79868 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit

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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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