Main clinical features
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skeletal dysplasia with cerebral and genital anomalies
hypoplastic or absent patellae, genital anomalies, craniofacial defects, and intellectual disability among other features, mental retardation
microcephaly, mild to moderate diffuse cortical atrophy, skeletal features included flat temporal bones, brachydactyly, flexion deformities of the hips and knees, and markedly hypoplastic patellae
anal anomalies, hypoplastic labia, clitoromegaly, scrotal hypoplasia, cryptorchidism, congenital heart defects, hydronephrosis |