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| Fetal anomalies v1.209 | DOHH | Ain Roesley Marked gene: DOHH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.209 | DOHH | Ain Roesley Gene: dohh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.209 | DOHH | Ain Roesley Classified gene: DOHH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.209 | DOHH | Ain Roesley Gene: dohh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.208 | DOHH |
Ain Roesley changed review comment from: 4 families - 5 affecteds 1x cardiomyopathy at prenatal examination 4/5 presented with CHD post-natally - VSD, ASD, severe cardiomegaly, Shone syndrome with aortic coarctation; bicuspid aortic valve; tricuspid-valve insufficiency etc microcephaly was post-natal Sources: Literature; to: 4 families - 5 affecteds prenatal examination: 1x cardiomyopathy 1x increased nuchal translucency; chylothorax post-natal: 4/5 presented with CHD - VSD, ASD, severe cardiomegaly, Shone syndrome with aortic coarctation; bicuspid aortic valve; tricuspid-valve insufficiency etc 5/5 microcephaly |
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| Fetal anomalies v1.208 | DOHH |
Ain Roesley gene: DOHH was added gene: DOHH was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOHH were set to 35858628 Phenotypes for gene: DOHH were set to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066 Review for gene: DOHH was set to GREEN gene: DOHH was marked as current diagnostic Added comment: 4 families - 5 affecteds 1x cardiomyopathy at prenatal examination 4/5 presented with CHD post-natally - VSD, ASD, severe cardiomegaly, Shone syndrome with aortic coarctation; bicuspid aortic valve; tricuspid-valve insufficiency etc microcephaly was post-natal Sources: Literature |
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