Broad philtrum, Bruxism, Bulbous nose, Cerebral hypomyelination, Cleft palate, Clinodactyly, Coarse facial features, Cupped ear, Downturned corners of mouth, EEG with polyspike wave complexes, EEG with spike-wave complexes, Elevated circulating alkaline phosphatase concentration, Epicanthus, Esotropia, Gait disturbance, Gastrostomy tube feeding in infancy, Generalized hypotonia, Global developmental delay, Growth delay, High palate, Highly arched eyebrow, Hip dysplasia, Hydronephrosis, Hypermetropia, Hypertelorism, Hypotonia, Inability to walk, Increased head circumference, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Involuntary movements, Long palpebral fissure, Mandibular prognathia, Microcephaly, Micrognathia, Myoclonus, Oculomotor apraxia, Oligohydramnios, Pectus excavatum, Plagiocephaly, Prominent nasal bridge, Reduced tendon reflexes, Round face, Scoliosis, Seizure, Shallow anterior chamber, Short neck, Short philtrum, Shortening of all distal phalanges of the fingers, Single umbilical artery, Small nail, Supernumerary nipple, Telangiectasia, Tented upper lip vermilion, Thickened helices, Thin upper lip vermilion, Upslanted palpebral fissure, Wide nasal bridge

increased anti-single stranded DNA antibody level, increased sensitivity to induced morbidity/mortality, increased spleen germinal center number, increased susceptibility to experimental autoimmune encephalomyelitis, kinked tail, limb grasping, renal glomerulus hypertrophy, reproductive system phenotype