Breathing dysregulation, Central hypoventilation, Central sleep apnea, Cognitive impairment, Constipation, Decreased fetal movement, Downslanted palpebral fissures, Failure to thrive, Feeding difficulties, Ganglioneuroblastoma, Ganglioneuroma, Gastroesophageal reflux, Hypercapnia, Hyperhidrosis, Hypotonia, Hypoventilation, Hypoxemia, Intellectual disability, Low-set ears, Neoplasm of the central nervous system, Neoplasm of the nervous system, Neuroblastoma, Oligohydramnios, Polyhydramnios, Posteriorly rotated ears, Prolonged QT interval, Respiratory insufficiency, Seizure, Sensorineural hearing impairment, Small for gestational age, Strabismus

abnormal locus ceruleus morphology, abnormal lung volume, abnormal medulla oblongata morphology, abnormal neuron differentiation, abnormal neuron physiology, abnormal neuronal precursor proliferation, abnormal nodose ganglion morphology, abnormal noradrenaline level, abnormal parasympathetic ganglion morphology, abnormal petrosal ganglion morphology, abnormal pterygopalatine ganglion morphology, abnormal pulmonary ventilation, abnormal retrotrapezoid nucleus morphology, abnormal sympathetic ganglion morphology, abnormal vagus ganglion morphology, abnormal vagus nerve morphology, absent facial nerve, absent petrosal ganglion, absent trigeminal nerve, alkalemia, blood vessel congestion, decreased body size, decreased enteric neural crest cell number, decreased enteric neural crest cell proliferation, decreased neuronal precursor cell number, decreased pulmonary ventilation, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, impaired neuron differentiation, lethality throughout fetal growth and development, complete penetrance, neonatal lethality, complete penetrance, nervous system phenotype, no abnormal phenotype detected, postnatal lethality, postnatal lethality, complete penetrance, preweaning lethality, incomplete penetrance, small facial motor nucleus, small trigeminal ganglion