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| Fetal hydrops v1.16 | RYR1 |
Zornitza Stark gene: RYR1 was added gene: RYR1 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RYR1 were set to 28543167; 26932181 Phenotypes for gene: RYR1 were set to Central core disease, MIM# 117000; Multiple pterygium syndrome Review for gene: RYR1 was set to GREEN gene: RYR1 was marked as current diagnostic Added comment: Severe end of spectrum of RYR1-related disorders can present antenatally, including with hydrops. Sources: Expert list |
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