non-syndromic X-linked intellectual disability 30

Term ID

DOID:0112051

Synonyms

• MRX30
• MRX47
• X-linked mental retardation 30
• X-linked mental retardation 30/47
• X-linked mental retardation 47

Definition

A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. (3)

References

• OMIM:300558

Ontology

Human Disease   ( DOID:0112051 )