Fig. 2

Classes of clinical diagnoses and percentage of cases with major disease features. a Distribution of clinical diagnoses based on a leading clinical or morphological feature in 74 of 526 families with identified molecular diagnosis in a child seeking prenatal counseling for one or more pregnancies. Most common diagnosis was microcephaly followed by degenerative brain diseases (DBD) and lissencephaly/polymicrogyria (LIS/PMG). b Percent of cases with corresponding symptom. Most cases presented with motor developmental delay and intellectual disability. Abbreviations: CBA-cerebellar atrophy/hypoplasia, DBD-degenerative brain disease, EPI-epilepsy, HSP-hereditary spastic paraplegia, ID-intellectual disability, JBST-Joubert Syndrome, LIS-lissencephaly, MIC-microcephaly, PCH-ponto-cerebellar hypoplasia, PMG-polymicrogyria, n.a.-data not available