Search Ontology:
Human Disease

syndromic X-linked intellectual disability 34

Term ID
DOID:0060817
Synonyms
  • macrocephaly-intellectual disability-left ventricular non compaction syndrome
  • mental retardation, X-linked, syndromic 34
  • MRXS34
  • MRXSML
  • 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. https://www.ncbi.nlm.nih.gov/pubmed/26571461
References
Ontology
Human Disease   ( DOID:0060817 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models