non-syndromic X-linked intellectual disability 105

Term ID

DOID:0112036

Synonyms

• MRX105
• X-linked mental retardation 105

Definition

A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23. https://pubmed.ncbi.nlm.nih.gov/25644381/

References

• OMIM:300984

Ontology

Human Disease   ( DOID:0112036 )