Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Monogenic short stature v0.145 RAPSN Arina Puzriakova Entity copied from Growth failure in early childhood v3.81
Monogenic short stature v0.145 RAPSN Arina Puzriakova gene: RAPSN was added
gene: RAPSN was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to Fetal akinesia deformation sequence 2, OMIM:618388; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326