Ataxia, Avascular necrosis, Behavioral abnormality, Constipation, Corneal erosion, Corneal opacity, Corneal ulceration, Decreased corneal reflex, Decreased number of large peripheral myelinated nerve fibers, Decreased sensitivity to hypoxemia, Diarrhea, EMG abnormality, Elevated circulating creatinine concentration, Emotional lability, Enterocolitis, Episodic hyperhidrosis, Feeding difficulties in infancy, Gait disturbance, Gastroesophageal reflux, Generalized hypotonia, Glomerular sclerosis, Glomerulopathy, Growth delay, Heterochromia iridis, Hyperhidrosis, Hypertension, Hypogeusia, Hypohidrosis, Hyponatremia, Hyporeflexia, Hypotonia, Impaired pain sensation, Incoordination, Increased blood urea nitrogen, Malignant hyperthermia, Myopia, Neuropathic arthropathy, Optic atrophy, Orthostatic hypotension, Osteolysis, Peripheral neuropathy, Recurrent corneal erosions, Recurrent fever, Recurrent fractures, Recurrent infections due to aspiration, Recurrent respiratory infections, Renal insufficiency, Scoliosis, Seizure, Tachycardia, Vomiting

abnormal heart looping, abnormal innervation pattern to muscle, abnormal intestinal peristalsis, abnormal intestine physiology, abnormal locomotor coordination, abnormal lumbar dorsal root ganglion morphology, abnormal muscle spindle morphology, abnormal neurite morphology, abnormal neuron differentiation, abnormal optic nerve innervation, abnormal placenta development, abnormal postural reflex, abnormal sensory ganglion morphology, abnormal sensory neuron innervation pattern, abnormal spongiotrophoblast layer morphology, abnormal stellate ganglion morphology, abnormal submandibular gland morphology, abnormal suckling behavior, abnormal superior cervical ganglion morphology, abnormal sympathetic ganglion morphology, abnormal telencephalon development, abnormal vascular development, abnormal vitelline vasculature morphology, absent atrioventricular cushions, absent gastric milk in neonates, absent heartbeat, absent lamina terminalis, absent limb buds, absent optic vesicle, absent pharyngeal arches, absent second pharyngeal arch, absent visceral yolk sac blood islands, audiogenic seizures, decreased birth body size, decreased birth weight, decreased body length, decreased body size, decreased brain weight, decreased embryo size, decreased fetal size, decreased neuron number, decreased sensory neuron number, decreased survivor rate, distended pericardium, dorsal root ganglion degeneration, embryonic growth arrest, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, environmentally induced seizures, excessive scratching, fetal growth retardation, incomplete embryo turning, incomplete rostral neuropore closure, increased grooming behavior, increased neuron apoptosis, increased neuron number, increased thermal nociceptive threshold, limb grasping, neonatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, postnatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, slow postnatal weight gain, small dorsal root ganglion, thin retina ganglion layer