X-linked intellectual disability, Schimke type

Orpha code: 85285OMIM code: 312840

Definition

A rare X-linked syndromic intellectual disability characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood.

Disease data
Classification

Malformation syndrome

ORPHA code
85285
OMIM code
312840
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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