Xin-Fang He

A de novo 1.62 Mb deletion at 2q34 with nonpenetrant neurodevelopmental phenotype at 12 months.

A de novo 1.62 Mb 2q34 deletion diagnosed prenatally with a favorable short-term neurodevelopmental outcome is reported, providing a counter example to the established pathogenic view and highlighting the complexity of genotype-phenotype correlation for ERBB4 haploinsufficiency.