Visualize Submit Comment
Metadata
ID DOID:0060817
Name syndromic X-linked intellectual disability 34
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
Xrefs

OMIM:300967

ORDO:466791

Subsets

DO_rare_slim

Synonyms

macrocephaly-intellectual disability-left ventricular non compaction syndrome [EXACT]

mental retardation, X-linked, syndromic 34 [EXACT]

MRXS34 [EXACT]

MRXSML [EXACT]

syndromic X-linked mental retardation Mircsof-Langouet type [EXACT]

Parent Relationships

is_a syndromic X-linked intellectual disability

Add an item to the term tracker