Asthma, Ataxia, Brain atrophy, Central scotoma, Cerebellar atrophy, Color vision defect, Delayed myelination, Dry skin, Dysarthria, Dysdiadochokinesis, Erythema, Facial asymmetry, Fasciculations, Flexion contracture, Gait ataxia, Gait disturbance, Generalized myoclonic seizure, Global developmental delay, Growth delay, High myopia, Hyperkeratosis, Hyperreflexia, Hypohidrosis, Hyporeflexia, Ichthyosis, Impaired smooth pursuit, Intellectual disability, profound, Intention tremor, Limb ataxia, Macular atrophy, Macular degeneration, Macular dystrophy, Macular flecks, Macule, Microcephaly, Neurological speech impairment, Nyctalopia, Nystagmus, Papule, Paroxysmal involuntary eye movements, Peripheral axonal neuropathy, Progressive cerebellar ataxia, Reduced visual acuity, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Retinal thinning, Scaling skin, Seizure, Spastic tetraplegia, Spasticity, Strabismus, Supranuclear gaze palsy, Urticaria, Visual impairment, Yellow/white lesions of the macula

abnormal retina rod cell morphology, abnormal retina rod cell outer segment morphology, abnormal rod electrophysiology, abnormal skin appearance, abnormal skin condition, abnormal synaptic vesicle exocytosis, abnormal synaptic vesicle number, decreased fetal size, decreased fetal weight, decreased unsaturated fatty acids level, homeostasis/metabolism phenotype, impaired skin barrier function, neonatal lethality, complete penetrance, prenatal lethality, complete penetrance, retina cone cell degeneration, retina photoreceptor degeneration, retina rod cell degeneration, shiny skin, thin retina outer nuclear layer, vision/eye phenotype