syndromic X-linked intellectual disability 34

Summary
Synonym
  • MRXS34
  • MRXSML
  • macrocephaly-intellectual disability-left ventricular non compaction syndrome
  • mental retardation, X-linked, syndromic 34
  • syndromic X-linked mental retardation Mircsof-Langouet type
Definition
A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13.
Super Class
syndromic X-linked intellectual disability
Disease Ontology
DOID:0060817
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4841 NONO non-POU domain containing octamer binding
Displaying 1 entry
Gene ID Gene Symbol Description Source
53610 Nono non-POU-domain-containing, octamer binding protein

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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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