non-syndromic X-linked intellectual disability 93

Term ID

DOID:0112045

Synonyms

• MRX93
• X-linked mental retardation 93
• X-linked mental retardation with macrocephaly

Definition

A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1. https://pubmed.ncbi.nlm.nih.gov/17668385/

References

• OMIM:300659

Ontology

Human Disease   ( DOID:0112045 )