syndromic X-linked intellectual disability Abidi type

Term ID

DOID:0060818

Synonyms

• mental retardation, X-linked syndromic, Abidi type
• MRXSAB
• syndromic X-linked mental retardation Abidi type

Definition

A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2. https://www.ncbi.nlm.nih.gov/pubmed/10398233

References

• MESH:C535556
• OMIM:300262
• ORDO:85273
• UMLS_CUI:C1846056

Ontology

Human Disease   ( DOID:0060818 )