aplasia cutis-myopia syndrome
Aplasia cutis-myopia syndrome is characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.
MONDO:0007145
aplasia cutis congenita
is_a
Gershoni-Baruch-Leibo syndrome
exact
aplasia cutis myopia
exact