Table 7 Abnormalities of antenatal ultrasound in 10 patients

Fetal growth retardation

2

DDX3X, PMM2

Small head circumfirence

1

CHAMP1

Increasing head circumfirence

1

GFAP

Hypoplasia of the cerebellar vermis

2

CPLANE1, DOCK6

Enlarged lateral ventricles

1

SPATA5

Hypoplasia of cerebellar vermis and dilation of lateral ventricles

1

ISPD

Congenital heart abnormality

1

ZEB2

Oligohydramnios

1

FARS2