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| Monogenic short stature v0.188 | PCNT | Achchuthan Shanmugasundram Phenotypes for gene: PCNT were changed from MOPDII; Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.138 | PCNT | Arina Puzriakova Entity copied from Growth failure in early childhood v3.81 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.138 | PCNT |
Arina Puzriakova gene: PCNT was added gene: PCNT was added to Monogenic short stature. Sources: Expert Review Red,Expert list Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCNT were set to 18157127; 18174396 Phenotypes for gene: PCNT were set to MOPDII; Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720 |
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