Calcaneovalgus deformity, Cerebellar atrophy, Cerebral atrophy, Cogwheel rigidity, Delayed speech and language development, Diffuse cerebral atrophy, Dilated third ventricle, Dilation of lateral ventricles, Drooling, Dysmetria, Echolalia, Extrapyramidal muscular rigidity, Frequent falls, Gait disturbance, Hyperactive deep tendon reflexes, Hyperreflexia, Hypomimic face, Hypoplasia of the corpus callosum, Hyporeflexia, Hyporeflexia of lower limbs, Hyporeflexia of upper limbs, Inability to walk, Intellectual disability, Left ventricular hypertrophy, Mask-like facies, Motor delay, Obesity, Parkinsonism, Pes planus, Resting tremor, Scissor gait, Scoliosis, Seizure, Slurred speech, Spastic paraparesis, Spasticity, Unsteady gait, Weak voice

abnormal nephrogenic zone morphology, abnormal nephron morphogenesis, abnormal nephron morphology, abnormal podocyte morphology, abnormal renal glomerulus morphology, abnormal renal tubule epithelium morphology, abnormal retina layer morphology, abnormal ureteric bud morphology, absent proximal convoluted tubule brush border, decreased a-wave amplitude, decreased b-wave amplitude, decreased cardiac muscle contractility, decreased kidney weight, decreased total retina thickness, decreased urine osmolality, dilated kidney collecting duct, dilated renal tubules, impaired autophagy, impaired branching involved in ureteric bud morphogenesis, increased circulating creatinine level, increased podocyte apoptosis, increased urine pH, kidney medulla cyst, podocyte foot process effacement, postnatal lethality, complete penetrance, renal cast, retina photoreceptor degeneration, small kidney