Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Chronic mucocutaneous candidiasis, Cleft palate, Cleft upper lip, Congestive heart failure, Cutaneous anergy, Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased proportion of CD4-positive helper T cells, Depressed nasal tip, Developmental cataract, Dilated cardiomyopathy, EEG abnormality, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Gray matter heterotopia, Growth delay, High palate, Hypertelorism, Hypopigmentation of hair, Hypopigmentation of the fundus, Hypopigmentation of the skin, Hypoplasia of the pons, Hypotelorism, Hypotonia, Immunodeficiency, Intellectual disability, Joint stiffness, Left ventricular hypertrophy, Low-set ears, Microcephaly, Micrognathia, Motor delay, Myopathy, Nystagmus, Ocular albinism, Optic atrophy, Penile hypospadias, Psychomotor retardation, Recurrent bacterial infections, Recurrent fungal infections, Recurrent infections, Recurrent respiratory infections, Recurrent viral infections, Renal tubular acidosis, Schizencephaly, Seizure, Sensorineural hearing impairment, Short stature, Sleep disturbance, Ureteral atresia

circling, decreased b-wave amplitude, decreased cerebral cortex pyramidal cell number, decreased hippocampus pyramidal cell number, decreased motor neuron number, decreased prepulse inhibition, decreased retina cone cell number, decreased skeletal muscle fiber size, decreased startle reflex, decreased white adipose tissue amount, decreased white fat cell lipid droplet size, decreased white fat cell size, hindlimb paralysis, impaired autophagy, increased exploration in new environment, increased mitochondrial size, increased retina apoptosis, limb grasping, liver/biliary system phenotype, microgliosis, muscular atrophy, neuronal cytoplasmic inclusions, poor grooming, premature death, retina outer nuclear layer degeneration, retina photoreceptor degeneration, retina rod cell degeneration, rough coat, skeletal muscle fiber degeneration, thin retina outer nuclear layer