X-linked intellectual disability, Wilson type

Definition

X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome.

Disease data

Classification

Malformation syndrome

ORPHA code

85290

OMIM code

309545

ICD10 code

Q87.8

ICD11 code

*Soruce