Activity
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2 actions
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| Monogenic short stature v0.125 | KHDC3L | Arina Puzriakova Entity copied from Growth failure in early childhood v3.79 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.125 | KHDC3L |
Arina Puzriakova gene: KHDC3L was added gene: KHDC3L was added to Monogenic short stature. Sources: Expert list,Expert Review Red watchlist tags were added to gene: KHDC3L. Mode of inheritance for gene: KHDC3L was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: KHDC3L were set to 29574422 Phenotypes for gene: KHDC3L were set to IUGR; Failure to thrive; Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671; pregnancy loss Penetrance for gene: KHDC3L were set to unknown |
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