Downslanted palpebral fissures, Ectopic anus, Edema, External genital hypoplasia, Failure to thrive, Finger syndactyly, Generalized hirsutism, Glandular hypospadias, Global developmental delay, Hearing impairment, Hepatic fibrosis, High palate, Hydrometrocolpos, Hydronephrosis, Hydroureter, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplastic left heart, Hypospadias, Intellectual disability, Low-set, posteriorly rotated ears, Medial flaring of the eyebrow, Mesoaxial hand polydactyly, Multicystic kidney dysplasia, Nephrotic syndrome, Neurological speech impairment, Nystagmus, Obesity, Patent ductus arteriosus, Pedal edema, Pigmentary retinopathy, Polycystic kidney dysplasia, Polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Prominent nasal bridge, Pulmonary hypoplasia, Rectovaginal fistula, Renal cyst, Renal hypoplasia/aplasia, Retinal dystrophy, Rod-cone dystrophy, Short neck, Short stature, Skeletal muscle atrophy, Syndactyly, Tarsal synostosis, Tetralogy of Fallot, Transverse vaginal septum, Urethral stricture, Urogenital sinus anomaly, Vaginal atresia, Ventricular septal defect, Vesicovaginal fistula, obsolete Abnormality of the metacarpal bones

enlarged lateral ventricles, enlarged third ventricle, eyelids open at birth, increased systemic arterial blood pressure, limbs/digits/tail phenotype, prenatal lethality, incomplete penetrance, small hippocampus, thin cerebral cortex