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Синдром Ван ден Боша

ORPHA:3417· OBSOLETE: Van den Bosch syndrome

Визначення(English summary)

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.