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Table 1 Genotype to phenotype associations

From: Molecular characterization of a novel ring 6 chromosome using next generation sequencing

Main clinical findings in the patient Gene References
Severe mental retardation, speech delay FOXC1 [2729]
FOXF2 [30]
GMDS [31]
Congenital heart disease, ostium secundum defect, patent ductus arteriosus, pulmonary stenosis, left superior vena cava residues and coronary sinus distention FOXC1 [2427]
FOXF2 [24, 25]
Teeth agenesis FOXF2 [30]
Leukoma IRF4 [37, 38]
Iridogoniodysgenesis anomaly and nystagmus FOXC1 [27]
FOXF2 [35]