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aplasia cutis-myopia syndrome

Disease Summary
Associated Targets ()

Mondo Description Aplasia cutis-myopia syndrome is characterised 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 Term and Equivalent IDs
MONDO:0010988:  aplasia cutis-myopia syndrome
GARD:0000756: 
MESH:C563394: 
Orphanet:1117: 
SCTID:720499004: