Table 1

Clinical characteristics of index kindred with novel ciliopathy phenotype

Pedigree ID	Cerebral	Craniofacial	Gastrointestinal	Genitourinary
I.1* XY TOP 21 weeks	Hydrocephalus Cerebellar hypoplasia Agenesis of corpus callosum	Cleft palate Micrognathia Rounded head Low-set ears	Duodenal atresia	Bilateral renal hypoplasia
I.2* XX IUD 17 weeks	Hydrocephalus	Prominent nose High nasal bridge Short columella Wide mouth	Duodenal atresia	Bilateral renal hypoplasia
I.3 XX	Normal	Normal	Normal	Normal
I.4* XX Twin1 IUD 22 weeks	Hydrocephalus Agenesis of corpus callosum	Cleft palate	Duodenal atresia Malrotation Accessory spleens	Bilateral renal hypoplasia
I.5* XY Twin 2 IUD 22 weeks	Hydrocephalus Agenesis of corpus callosum	Microcrania Hypertelorism Broad nasal root Low-set ears	Duodenal atresia Multiple SI atresia Malrotation	Bilateral renal hypoplasia
I.6 XY	Normal	Normal	Normal	Normal