| 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 | |
| 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 |