Colobomatous microphthalmia syndrome

Disease Term Disease ID Gene Symbol Classification References Source
COLOBOMATOUS MICROPHTHALMIA, RHIZOMELIC DYSPLASIA SYNDROME
C4707229
MAB21L2 Unknown — Disgenet
COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME
424099MONDO:0014380
MAB21L2 Causal
24906020 26116559 25719200
ClinGen ClinVar Disgenet Orphanet