Condition: Neonatal respiratory distress


rs1554389088 in CAMK2B gene and Neonatal respiratory distress PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554333853 in CDK13 gene and Neonatal respiratory distress PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs779027563 in CNTNAP1 gene and Neonatal respiratory distress PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Neonatal respiratory distress PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs1034395178 in LZTR1 gene and Neonatal respiratory distress PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.