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.