Aplasia cutis-myopia syndrome
MONDO:0010988Aplasia 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.
Also known as: Gershoni-Baruch-Leibo syndrome, aplasia cutis myopia, aplasia cutis congenita, high myopia, and cone-rod dysfunction
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