X-linked intellectual disability, Wilson type

Orpha code: 85290OMIM code: 309545

Definicja

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
Klasyfikacja

Malformation syndrome

Kod ORPHA
85290
Kod OMIM
309545
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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