ATOH7

atonal bHLH transcription factor 7
OMIM: 609875
PanelMode of inheritanceDetails
2 panels
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Persistent hyperplastic primary vitreous, autosomal recessive, 221900, multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus
R-numbers: R36
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AR Persistent hyperplasia of primary vitreous - optic nerve dysplasia, retinal detachment, Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900