Abnormality of the nose, Abnormality of the orbital region, Abnormality of the pulmonary artery, Abnormality of the voice, Abnormality of vision, Absent brainstem auditory responses, Aganglionic megacolon, Alacrima, Anosmia, Anterior hypopituitarism, Aplasia of the semicircular canal, Areflexia, Arrhythmia, Arthrogryposis multiplex congenita, Ataxia, Axial hypotonia, Bimanual synkinesia, Blue irides, Breast hypoplasia, Cafe-au-lait spot, Cerebral dysmyelination, Cerebral hypomyelination, Cleft palate, Color vision defect, Constipation, Cryptorchidism, Decreased fertility, Decreased lacrimation, Decreased nerve conduction velocity, Decreased testicular size, Delayed puberty, Delayed skeletal maturation, Demyelinating peripheral neuropathy, Dilated vestibule of the inner ear, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dysmyelinating leukodystrophy, Dyspareunia, Erectile dysfunction, Gait disturbance, Global developmental delay, Gynecomastia, Hearing impairment, Hepatomegaly, Heterochromia iridis, Hypogonadism, Hypogonadotropic hypogonadism, Hypohidrosis, Hypopigmentation of hair, Hypopigmentation of the fundus, Hypopigmented skin patches, Hypoplasia of penis, Hypoplasia of the iris, Hypoplasia of the semicircular canal, Hyporeflexia, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypotonia, Ichthyosis, Ileus, Intellectual disability, Intestinal obstruction, Lacrimal gland hypoplasia, Long-segment aganglionic megacolon, Microcolon, Micropenis, Morphological abnormality of the vestibule of the inner ear, Muscle weakness, Myelin outfoldings, Neonatal hypotonia, Nystagmus, Obesity, Ocular albinism, Olfactory lobe agenesis, Paraplegia, Pectus excavatum, Peripheral demyelination, Peripheral hypomyelination, Peripheral neuropathy, Pes cavus, Pes planus, Premature graying of hair, Primary amenorrhea, Prominent nasal bridge, Ptosis, Recurrent fractures, Reduced bone mineral density, Renal agenesis, Seizure, Sensorineural hearing impairment, Skeletal dysplasia, Spastic paraparesis, Spastic tetraplegia, Spasticity, Splenomegaly, Synophrys, Telecanthus, Tooth agenesis, Tremor, Underdeveloped nasal alae, Vascular dilatation, Visual impairment, White eyebrow, White eyelashes, White forelock, Wide nasal bridge

abnormal dorsal root ganglion morphology, abnormal enteric neural crest cell migration, abnormal enteric neural crest cell morphology, abnormal enteric neuron morphology, abnormal frontonasal mesenchyme morphology, abnormal glial cell morphology, abnormal limb posture, abnormal locomotor behavior, abnormal melanoblast migration, abnormal melanoblast morphology, abnormal melanocyte differentiation, abnormal neural crest cell migration, abnormal neural crest cell physiology, abnormal neural crest morphology, abnormal neuron proliferation, abnormal nodose ganglion morphology, abnormal oligodendrocyte physiology, abnormal parasympathetic ganglion morphology, abnormal sciatic nerve morphology, abnormal sensory neuron morphology, abnormal spinal nerve morphology, abnormal superior cervical ganglion morphology, abnormal sympathetic ganglion morphology, abnormal sympathetic neuron morphology, abnormal vagal neural crest cell migration, abnormal ventral spinal root morphology, absent Schwann cells, absent coat pigmentation, absent enteric neural crest cell, absent hair follicle melanin granules, belly spot, brain vacuoles, darkened coat color, decreased Schwann cell number, decreased cell migration, decreased foot pigmentation, decreased melanocyte number, decreased neuron number, decreased oligodendrocyte number, decreased tail pigmentation, digestive/alimentary phenotype, diluted coat color, dorsal root ganglion degeneration, dorsal root ganglion hypoplasia, embryonic lethality, complete penetrance, head blaze, increased neuron apoptosis, increased vagal neural crest cell apoptosis, lethality at weaning, incomplete penetrance, megacolon, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, nervous system phenotype, no abnormal phenotype detected, non-pigmented tail tip, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, incomplete penetrance, small dorsal root ganglion, spongiform encephalopathy, sporadic seizures, unresponsive to tactile stimuli, white spotting