Condition: Infantile muscular hypotonia


rs398122394 in ALG13 gene and Infantile muscular hypotonia PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

rs752746786 in GNB1 gene and Infantile muscular hypotonia PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs387906799 in KIF1A gene and Infantile muscular hypotonia PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs114638163 in MIPEP gene and Infantile muscular hypotonia PMID 27799064 2016 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

rs1555703272 in SLC25A10 gene and Infantile muscular hypotonia PMID 29211846 2018 SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.