| Phenotype details |
Malposition of fingers, foot deformity, exophthalmos, neck oedema, ventriculomegaly, hypogenitalism, undescended testis, cardiac: ASD, VSD, cardiac arrhythmia, heart structurally normal, supraventricular tachycardia, maturation delay according to EEG, cMRI with ventriculomegaly and septa in the ventricles, dysphagia |