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.