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syndromic X-linked intellectual disability 34
Summary
- Synonym
-
- MRXS34
- MRXSML
- macrocephaly-intellectual disability-left ventricular non compaction syndrome
- mental retardation, X-linked, syndromic 34
- 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.
- Super Class
- syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0060817
- Mondo Disease Ontology
- ORDO
- OMIM
