. Author manuscript; available in PMC: 2023 Oct 17.

Published in final edited form as: Genet Med. 2023 Jun 13;25(10):100915. doi: 10.1016/j.gim.2023.100915

Table 4.

ES result stratified by FBA category

FBA Category	Positive ES	Negative ES	P value
Posterior fossa anomalies	15 (60)	19 (37)	0.06
Disorders of cerebrospinal fluid (CSF)	9 (36)	18 (35)	1.0
Midline defects	11 (44)	21 (41)	0.8
Cortical disorders	2 (8)	6 (12)	0.6
Neural tube defects (NTDs)	0	11 (22)	0.01

Data shown as N (%). Values do not add up to 100%, as findings are not mutually exclusive.

Posterior Fossa Anomalies: vermian dysgenesis/hypoplasia without NTD.

Midline Defects: holoprosencephaly, abnormal cavum septum pellucidum/corpus callosum.

Disorders of CSF: ventriculomegaly, hydrocephaly.

Cortical Disorders: lissencephaly, schizencephaly, polymicrogyria.

Neural Tube Defect: spina bifida, anencephaly, encephalocele.

ES, exome sequencing; CSF, cerebrospinal fluid; NTDs, neural tube defects.