Amelo-cerebro-hypohidrotic syndrome (Q83075)

Amelo-cerebro-hypohidrotic syndrome or Kohlschütter-Tönz syndrome is a degenerative disease characterised by amelogenesis imperfecta, seizures, mental regression and yellow teeth due to defective enamel. So far, 19 cases have been reported. Spasticity and developmental delay are also variable manifestations. It is transmitted as an autosomal recessive trait.