Condition: Poor head control
rs1554333853
in
CDK13
gene and
Poor head control
PMID 28807008
2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
rs1566974586
in
GALC
gene and
Poor head control
PMID 30209698
2018 A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.
rs1114167445
in
SPTBN4
gene and
Poor head control
PMID 28540413
2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.
rs1554817910
in
ZMIZ1
gene and
Poor head control
PMID 30639322
2019 ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.