Van den Bosch syndrome

Orpha code: 3417OMIM code: 314500

Definition

A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959.

Disease data
Classification

Malformation syndrome

ORPHA code
3417
OMIM code
314500
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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