1 |
I |
Severe bilateral Sensorineural Hearing Loss (SNHL); cyst on brain ultrasound (US) and MRI; Neurodevelopmental impairment |
2 |
NA |
SGA, cyst on brain US |
3 |
I |
Fetal US abnormalities, thrombocytopenia, widespread hyperechogenicity and germinal matrix hemorrhage on brain US |
4 |
I |
Asymptomatic |
5 |
I |
Fetal US abnormalities (ventriculomegaly), widespread hyperechogenicity and ventriculomegaly on brain US; cyst, delayed myelination, and ventriculomegaly on MR; macular abnormalities on fundus oculi and fluctuating severe SNHL |
6 |
NA |
IUGR, SGA, microcephaly, widespread hyperechogenicity on brain US |
7 |
NA |
IUGR, SGA, microcephaly, severe bilateral SNHL, cyst on brain US |