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DOID:0060817 - syndromic X-linked intellectual disability 34
Disease Ontology 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.
Synonyms: MRXS34, MRXSML, macrocephaly-intellectual disability-left ventricular non compaction syndrome, mental retardation, X-linked, syndromic 34, syndromic X-linked mental retardation Mircsof-Langouet type,
Xenbase Genes : nono
MONDO:0010501 - syndromic X-linked intellectual disability 34 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee