Skip to main content

Table 1 Clinical features of affected and carrier members of the NHS family

From: A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family

Disease phenotype II:5 (affected) III:1 (affected) II:2 (carrier) III:7 (carrier)
Ocular features Bilateral congenital cataract + + + +
Microcornea + + + +
Nystagmus + + + +
Microphthalmia - - - -
High myopia + + + +
Strabismus + + + +
Non-ocular features Brachymetacarpia + + + +
Prominent nose + - - -
Long and narrow face + - - -
Diastema NA + NA +
Mental retardation - + - -
  1. NA not available