non-syndromic X-linked intellectual disability 45

Term ID

DOID:0112028

Synonyms

• MRX45
• X-linked mental retardation 45

Definition

A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. https://pubmed.ncbi.nlm.nih.gov/10398246/

References

• OMIM:300498

Ontology

Human Disease   ( DOID:0112028 )