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| Monogenic short stature v1.29 | NLRP5 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #620333) and the OMIM record was last accessed on 18 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.29 | NLRP5 | Achchuthan Shanmugasundram Phenotypes for gene: NLRP5 were changed from IUGR; Short stature; Failure to thrive; body asymmetry; multilocus imprinting disturbances to Oocyte/zygote/embryo maturation arrest 19, OMIM:620333; oocyte/zygote/embryo maturation arrest 19, MONDO:0957231 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.77 | NLRP5 | Arina Puzriakova Entity copied from Growth failure in early childhood v3.78 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.77 | NLRP5 |
Arina Puzriakova gene: NLRP5 was added gene: NLRP5 was added to Monogenic short stature. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: NLRP5 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NLRP5 were set to 26323243; 29574422 Phenotypes for gene: NLRP5 were set to IUGR; Short stature; Failure to thrive; body asymmetry; multilocus imprinting disturbances Penetrance for gene: NLRP5 were set to unknown |
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