Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Cryptorchidism, Diabetes mellitus, Dilated cardiomyopathy, 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, Optic disc pallor, Photophobia, Pigmentary retinopathy, Postaxial foot polydactyly, Postaxial hand polydactyly, Posterior polar cataract, Progressive night blindness, Prominent nasal bridge, Retinal degeneration, Rod-cone dystrophy, Sensorineural hearing impairment, Short neck, Short stature, Skeletal muscle atrophy, Type II diabetes mellitus, Visual impairment, Wide nasal bridge

decreased body size, decreased retina cone cell number, decreased retina rod cell number, decreased salivation, decreased startle reflex, disorganized photoreceptor outer segment, enlarged lateral ventricles, enlarged third ventricle, hyporesponsive to tactile stimuli, increased body mass index, increased ceramide level, increased circulating alanine transaminase level, increased liver weight, increased total body fat amount, limbs/digits/tail phenotype, renal/urinary system phenotype, retina outer nuclear layer degeneration, small hippocampus, thin cerebral cortex, thin retina outer nuclear layer