Disease: Muscular hypotonia of the trunk ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscular hypotonia of the trunk
CUI: C1853743
Disease: Muscular hypotonia of the trunk
0.700 GeneticVariation CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687 2017
Muscular hypotonia of the trunk
CUI: C1853743
Disease: Muscular hypotonia of the trunk
0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016