Abnormality of the cardiovascular system, Abnormality of the integument, Abnormality of the mouth, Abnormality of the nervous system, Abnormality of the skin, Abnormality of the tongue, Adrenal hyperplasia, Aganglionic megacolon, Anorexia, Anxiety, Apnea, Arachnodactyly, Arrhythmia, Benign neoplasm of the central nervous system, Bone pain, Breathing dysregulation, Cafe-au-lait spot, Central hypoventilation, Central sleep apnea, Cerebral hemorrhage, Chest pain, Cleft palate, Cognitive impairment, Colonic diverticula, Congestive heart failure, Constipation, Corneal dystrophy, Cutaneous lichen amyloidosis, Decreased fetal movement, Dehydration, Depressed nasal ridge, Depression, Developmental cataract, Diabetes mellitus, Diarrhea, Disproportionate tall stature, Downslanted palpebral fissures, Dry skin, Elevated calcitonin, Elevated urinary dopamine, Elevated urinary epinephrine, Elevated urinary norepinephrine, Elevated urinary vanillylmandelic acid, Epicanthus, Episodic hypertension, Failure to thrive, Failure to thrive in infancy, Fatigue, Feeding difficulties, Fetal polyuria, Flushing, Ganglioneuroblastoma, Ganglioneuroma, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Headache, Hemangioma, High palate, High, narrow palate, Hypercalcemia, Hypercapnia, Hyperhidrosis, Hyperlordosis, Hyperparathyroidism, Hypertelorism, Hypertension, Hypertensive crisis, Hypertensive retinopathy, Hypotension, Hypotonia, Hypoventilation, Hypoxemia, Increased circulating cortisol level, Increased inflammatory response, Intellectual disability, Intestinal obstruction, Intestinal polyposis, Irregular hyperpigmentation, Kyphosis, Low-set ears, Lymphadenopathy, Medullary thyroid carcinoma, Multiple cafe-au-lait spots, Multiple lipomas, Muscle weakness, Myopathy, Nausea and vomiting, Neoplasm, Neoplasm of the adrenal gland, Neoplasm of the central nervous system, Nephrolithiasis, Neuroblastoma, Nodular goiter, Non-midline cleft of the upper lip, Nonketotic hypoglycemia, Oligohydramnios, Pallor, Palpitations, Parathyroid adenoma, Parathyroid hyperplasia, Paresthesia, Patellar aplasia, Pectus excavatum, Pedal edema, Peripheral neuropathy, Pes cavus, Pheochromocytoma, Polyhydramnios, Positive regitine blocking test, Posteriorly rotated ears, Proteinuria, Proximal femoral epiphysiolysis, Pruritus, Pulmonary hypoplasia, Reduced consciousness/confusion, Renal agenesis, Renal artery stenosis, Respiratory insufficiency, Scoliosis, Seizure, Sensorineural hearing impairment, Sirenomelia, Skin rash, Slender long bone, Small for gestational age, Strabismus, Tachycardia, Tall stature, Thick eyebrow, Thick lower lip vermilion, Thyroid C cell hyperplasia, Tracheoesophageal fistula, Tremor, Urogenital fistula, Weight loss, obsolete Joint hyperflexibility, obsolete Joint laxity

abnormal gastrocnemius morphology, abnormal hypaxial muscle morphology, abnormal hypoglossal nucleus morphology, abnormal innervation, abnormal innervation pattern to muscle, abnormal intestinal peristalsis, abnormal jejunum morphology, abnormal kidney collecting duct morphology, abnormal kidney development, abnormal kidney medulla development, abnormal kidney mesenchyme morphology, abnormal kidney morphology, abnormal lung development, abnormal mesonephros morphology, abnormal metanephric mesenchyme morphology, abnormal motor neuron innervation pattern, abnormal muscle spindle morphology, abnormal neuromuscular synapse morphology, abnormal neuron differentiation, abnormal neurotransmitter secretion, abnormal parasympathetic postganglionic fiber morphology, abnormal prevertebral ganglion morphology, abnormal pterygopalatine ganglion morphology, abnormal renal glomerulus morphology, abnormal stellate ganglion morphology, abnormal submandibular gland morphology, abnormal sympathetic ganglion morphology, abnormal sympathetic neuron morphology, abnormal sympathetic postganglionic fiber morphology, abnormal synaptic dopamine release, abnormal ureter development, abnormal ureteric bud elongation, abnormal ureteric bud invasion, abnormal ureteric bud morphology, absent enteric neural crest cell, absent enteric neurons, absent kidney cortex, absent kidney medulla, absent nephrogenic zone, absent superior cervical ganglion, absent ureter, adrenal cortical hyperplasia, adrenergic chromaffin cell hyperplasia, arrest of spermatogenesis, blind ureter, cardiovascular system phenotype, decreased kidney weight, decreased locomotor activity, decreased motor neuron number, decreased neuron apoptosis, decreased renal glomerulus number, digestive/alimentary phenotype, dilated renal glomerular capsule, dilated renal tubules, dilated ureter, distended ileum, ectopic ovary, ectopic ureteric bud, endocrine/exocrine gland phenotype, enlarged ileum, hematopoietic system phenotype, immune system phenotype, impaired branching involved in ureteric bud morphogenesis, increased cell proliferation, increased ganglioneuroma incidence, increased kidney apoptosis, increased metanephric mesenchyme apoptosis, increased neuron apoptosis, increased thyroid adenoma incidence, large ureter, loss of dopaminergic neurons, muscular atrophy, neonatal lethality, complete penetrance, nervous system phenotype, no abnormal phenotype detected, perinatal lethality, complete penetrance, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, renal cast, renal/urinary system phenotype, reproductive system phenotype, seminiferous tubule degeneration, small dorsal root ganglion, small kidney, small superior cervical ganglion, ureter stenosis, weakness