Condition: Abnormal delivery
rs1555743003
in
ASXL3
gene and
Abnormal delivery
PMID 27075689
2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1554333853
in
CDK13
gene and
Abnormal delivery
PMID 28807008
2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
rs121908557
in
SCN4A;LOC105371858
gene and
Abnormal delivery
PMID 15596759
2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
PMID 19065518
2008 [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].