Abnormality of vision, Aganglionic megacolon, Albinism, Ataxia, Blue irides, Constipation, Global developmental delay, Hearing impairment, Heterochromia iridis, Hypopigmentation of hair, Hypopigmentation of the fundus, Hypopigmented skin patches, Hypotonia, Intestinal obstruction, Large for gestational age, Leukodystrophy, Nystagmus, Olfactory lobe agenesis, Polyneuropathy, Premature graying of hair, Prominent nasal bridge, Ptosis, Sensorineural hearing impairment, Spastic paraparesis, Synophrys, Telecanthus, Underdeveloped nasal alae, White eyebrow, White eyelashes, White forelock, Wide nasal bridge

abnormal enteric neuron morphology, abnormal epidermal melanocyte morphology, abnormal feces composition, abnormal foot pigmentation, abnormal hair follicle melanocyte morphology, abnormal hearing physiology, abnormal hindgut morphology, abnormal intestinal mucosa morphology, abnormal intestine physiology, abnormal large intestine crypts of Lieberkuhn morphology, abnormal melanocyte proliferation, abnormal neuromuscular synapse morphology, abnormal nitric oxide homeostasis, abnormal oxygen level, abnormal palatal rugae morphology, abnormal phrenic nerve morphology, abnormal pigmentation pattern, abnormal secondary palate development, abnormal stria vascularis morphology, abnormal tail pigmentation, absent coat pigmentation, absent enteric neurons, absent palatine bone horizontal plate, absent strial intermediate cells, belly spot, cardiovascular system phenotype, cochlear hair cell degeneration, deafness, decreased acute inflammation, decreased body size, decreased circulating lactate level, decreased melanocyte number, decreased renin activity, decreased response of heart to induced stress, decreased vasodilation, digestive/alimentary phenotype, failure of palatal shelf elevation, head spot, hypoalgesia, hypoxia, increased cardiac muscle contractility, increased cardiac output, increased cell proliferation, increased mean systemic arterial blood pressure, increased mitotic index, increased systemic arterial blood pressure, increased systemic arterial diastolic blood pressure, increased systemic arterial systolic blood pressure, lethality at weaning, lethality at weaning, complete penetrance, maxillary shelf hypoplasia, megacolon, muscle phenotype, neonatal lethality, complete penetrance, nervous system phenotype, organ of Corti degeneration, pigmentation phenotype, postnatal lethality, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, complete penetrance, preweaning lethality, complete penetrance, preweaning lethality, incomplete penetrance, respiratory system phenotype, thin stria vascularis, white spotting