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.