non-syndromic X-linked intellectual disability 1

Term ID

DOID:0112038

Synonyms

• MRX1
• MRX18
• MRX78
• X-linked mental retardation 1
• X-linked mental retardation 1/78
• X-linked mental retardation 18
• X-linked mental retardation 78

Definition

A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22. (2)

References

• GARD:13221
• MIM:309530

Ontology

Human Disease   ( DOID:0112038 )