Conductive hearing impairment, Constriction of peripheral visual field, Cryptorchidism, Downslanted palpebral fissures, External genital hypoplasia, Finger syndactyly, Generalized hirsutism, Glaucoma, Global developmental delay, Hearing impairment, Hepatic fibrosis, Hyperinsulinemia, Hyperreflexia, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Keratoconus, Low-set, posteriorly rotated ears, Medial flaring of the eyebrow, Multicystic kidney dysplasia, Nephrotic syndrome, Neurological speech impairment, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Pigmentary retinopathy, Polydactyly, Postaxial hand polydactyly, Progressive night blindness, Prominent nasal bridge, Renal hypoplasia, Retinal dystrophy, Rod-cone dystrophy, Sensorineural hearing impairment, Short neck, Short stature, Skeletal muscle atrophy, Tricuspid regurgitation, Type II diabetes mellitus, Visual impairment, Wide nasal bridge

absent sperm flagellum, behavior/neurological phenotype, cellular phenotype, decreased brain ependyma motile cilium number, decreased striatum size, disorganized photoreceptor inner segment, domed cranium, growth/size/body region phenotype, increased percent body fat/body weight, increased systemic arterial blood pressure, small hippocampus, thin cerebral cortex, vision/eye phenotype