syndromic X-linked intellectual disability 34

Term ID

DOID:0060817

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

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

References

• MIM:300967
• ORDO:466791

Ontology

Human Disease   ( DOID:0060817 )