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Hydrops fetalis v0.167 | IFT122 | Zornitza Stark Marked gene: IFT122 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrops fetalis v0.167 | IFT122 | Zornitza Stark Gene: ift122 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrops fetalis v0.167 | IFT122 |
Zornitza Stark gene: IFT122 was added gene: IFT122 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT122 were set to 28370949 Phenotypes for gene: IFT122 were set to Beemer-Langer syndrome Review for gene: IFT122 was set to RED Added comment: Single case report of a presentation consistent with the severe ciliopathy Beemer-Langer syndrome, and mild generalised oedema identified antenatally. Sources: Expert list |