Table 1.

Summary of clinical features of the patients in this family

	II-3	III-1	III-2	III-3	III-4
Age	35-years old	21-weeks of gestation	18-weeks of gestation	One-year-old	10-weeks of gestation
Karyotype	46,XX	Unknown	46,XX	46,XY	46,XX
Phenotypic severity	Relatively mild	Severe	Severe	Relatively mild	Severe
Preterm birth	+	Unknown	Unknown	+	Unknown
Acrania	–	–	–	–	+
Microphthalmia	–	Unknown	Unknown	+	Unknown
Optic nerve coloboma	–	Unknown	Unknown	+	Unknown
Cleft lip and palate	+	Unknown	+	–	Unknown
Nasolacrimal duct obstruction	+	Unknown	Unknown	+	Unknown
Low-set ears	+	Unknown	+	+	Unknown
Hearing loss	+	Unknown	Unknown	–	Unknown
Facial skin defect	+	Unknown	–	+	Unknown
Micrognathia	+	Unknown	–	+	Unknown
Polycystic kidney	–	+	+	–	Unknown
Severe potter syndrome	–	+	+	–	Unknown
Intellectual disability	–	Unknown	Unknown	–	Unknown