Anteverted nares, Apnea, Ataxia, Biparietal narrowing, Cataract, Cerebellar vermis hypoplasia, Chronic kidney disease, Cleft palate, Cognitive impairment, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Delayed gross motor development, Downslanted palpebral fissures, Elongated superior cerebellar peduncle, Encephalocele, Feeding difficulties, Finger syndactyly, Gait disturbance, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Growth delay, Hand polydactyly, Hearing impairment, Hepatic fibrosis, Highly arched eyebrow, Hydrocephalus, Hypertension, Hypogonadism, Hypometric saccades, Hypoplasia of penis, Hypoplasia of the ovary, Hyposthenuria, Hypotonia, Intellectual disability, Iris coloboma, Long face, Low-set, posteriorly rotated ears, Medial flaring of the eyebrow, Molar tooth sign on MRI, Multicystic kidney dysplasia, Nephronophthisis, Nephropathy, Nephrotic syndrome, Neurological speech impairment, Nystagmus, Obesity, Oculomotor apraxia, Orofacial cleft, Pigmentary retinopathy, Polydipsia, Polymicrogyria, Polyuria, Postaxial hand polydactyly, Premature ovarian insufficiency, Progressive visual loss, Prominent nasal bridge, Ptosis, Renal corticomedullary cysts, Renal insufficiency, Renal tubular atrophy, Retinal dystrophy, Rod-cone dystrophy, Scoliosis, Seizure, Short neck, Short stature, Skeletal muscle atrophy, Stage 5 chronic kidney disease, Strabismus, Thickened superior cerebellar peduncle, Tremor, Tubular basement membrane disintegration, Tubulointerstitial fibrosis, Visual impairment