Condition: Birth length less than 3rd percentile
rs1554333853
in
CDK13
gene and
Birth length less than 3rd percentile
PMID 28807008
2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
rs151344517
in
LOC107985154;AFG3L2;TUBB6
gene and
Birth length less than 3rd percentile
PMID 20725928
2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.