syndromic X-linked intellectual disability 34

Summary

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: macrocephaly-intellectual disability-left ventricular non compaction syndrome, mental retardation, X-linked, syndromic 34, MRXS34, MRXSML, syndromic X-linked mental retardation Mircsof-Langouet type

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: nono

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010501 - syndromic X-linked intellectual disability 34

MONDO:0010501 - syndromic X-linked intellectual disability 34

MIM:

MIM:300967 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 34; MRXS34

MIM:300967 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 34; MRXS34

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): syndromic X-linked intellectual disability (is_a)