Congenital cataract hearing loss developmental delay syndrome

Disease Term Disease ID Gene Symbol Classification References Source
CONGENITAL CATARACT, HEARING LOSS, SEVERE DEVELOPMENTAL DELAY SYNDROME
C4751114
SLC33A1 Unknown — Disgenet
CONGENITAL CATARACT, PROGRESSIVE MUSCULAR HYPOTONIA, HEARING LOSS, DEVELOPMENTAL DELAY SYNDROME
C4750835
GFER Unknown — Disgenet
CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME
300313
SLC33A1 Unknown
22243965
Orphanet
CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME
330054MONDO:0013116
GFER Causal
19409522 25269795 26944241
ClinVar Orphanet