rs867410737 in
ATP5F1D gene and
Muscle Hypertonia
PMID 29478781 2018 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
rs1554333853 in
CDK13 gene and
Muscle Hypertonia
PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
rs752298579 in
TANGO2 gene and
Muscle Hypertonia
PMID 26805781 2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
rs748787734 in
TUBB4A gene and
Muscle Hypertonia
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.