Van den Bosch syndrome

Orpha code: 3417OMIM code: 314500

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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