syndromic X-linked intellectual disability 12

Term ID

DOID:0060804

Synonyms

• mental retardation, X-linked, syndromic 12
• X-linked intellectual disability, Wilson type

Definition

A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11. https://www.ncbi.nlm.nih.gov/pubmed/1357179

References

• ICD10CM:Q87.8
• OMIM:309545
• ORDO:85290

Ontology

Human Disease   ( DOID:0060804 )