non-syndromic X-linked intellectual disability 21

Term ID

DOID:0112022

Synonyms

• MRX21
• MRX34
• X-linked mental retardation 21
• X-linked mental retardation 21/34
• X-linked mental retardation 34

Definition

A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2. https://pubmed.ncbi.nlm.nih.gov/18801879/

References

• OMIM:300143

Ontology

Human Disease   ( DOID:0112022 )