Abnormality of the elbow, Abnormality of the skeletal system, Abnormality of the tonsils, Angina pectoris, Anteverted nares, Aortic regurgitation, Aortic valve stenosis, Biconcave vertebral bodies, Broad face, Broad nasal tip, C1-C2 subluxation, Calvarial hyperostosis, Camptodactyly of finger, Cardiomyopathy, Cerebral palsy, Cervical cord compression, Chronic diarrhea, Coarse facial features, Constrictive median neuropathy, Corneal opacity, Coxa valga, Depressed nasal bridge, Depression, Diaphyseal undertubulation, Dolichocephaly, Dysostosis multiplex, Endocardial fibroelastosis, Enlarged tonsils, Everted lower lip vermilion, Feeding difficulties, Flared iliac wing, Flexion contracture, Frontal bossing, Full cheeks, Generalized hirsutism, Genu valgum, Gingival overgrowth, Glaucoma, Global developmental delay, Growth delay, Hearing impairment, Hepatomegaly, Hepatosplenomegaly, Hernia, Hirsutism, Hydrocephalus, Hypertension, Hypoplasia of the femoral head, Hypoplasia of the odontoid process, Hypotonia, Intellectual disability, J-shaped sella turcica, Joint stiffness, Kyphosis, Large face, Limitation of joint mobility, Macrocephaly, Macroglossia, Mandibular prognathia, Microdontia, Micrognathia, Mitral regurgitation, Narrow pelvis bone, Neurodegeneration, Obstructive sleep apnea, Opacification of the corneal stroma, Pes cavus, Progressive neurologic deterioration, Pulmonary arterial hypertension, Recurrent ear infections, Recurrent respiratory infections, Retinal degeneration, Retinopathy, Rhinitis, Scoliosis, Sensorineural hearing impairment, Short clavicles, Short neck, Short stature, Skeletal dysplasia, Sleep disturbance, Spastic paraparesis, Spinal canal stenosis, Splenomegaly, Spondylolisthesis, Thick eyebrow, Thick vermilion border, Thickened skin, Tracheal stenosis, Umbilical hernia, Urinary glycosaminoglycan excretion, Wide mouth, Wide nasal bridge, Wide nose

abnormal cervical vertebrae morphology, abnormal chondrocyte morphology, abnormal circadian behavior, abnormal circadian regulation of heart rate, abnormal circadian temperature homeostasis, abnormal craniofacial morphology, abnormal endocardium morphology, abnormal external auditory canal morphology, abnormal foam cell morphology, abnormal foramen magnum morphology, abnormal learning/memory/conditioning, abnormal limb morphology, abnormal long bone diaphysis morphology, abnormal long bone hypertrophic chondrocyte zone, abnormal long term spatial reference memory, abnormal lysosome morphology, abnormal microglial cell morphology, abnormal microglial cell physiology, abnormal mitral valve morphology, abnormal myocardial fiber morphology, abnormal myocardium layer morphology, abnormal response to novel object, abnormal spatial learning, abnormal zygomatic arch morphology, abnormal zygomatic bone morphology, broad snout, cochlear ganglion degeneration, cochlear hair cell degeneration, deafness, decreased cardiac output, decreased heart rate variability, decreased locomotor activity, decreased percent body fat/body weight, decreased startle reflex, decreased survivor rate, decreased ventricle muscle contractility, decreased vertical activity, disheveled coat, hip dislocation, increased anxiety-related response, increased collagen deposition in the muscles, increased diameter of femur, increased left ventricle weight, increased or absent threshold for auditory brainstem response, increased osteoblast cell number, increased susceptibility to otitis media, increased systemic arterial systolic blood pressure, lysosomal protein accumulation, organ of Corti degeneration, pale liver, premature death, prolonged P wave, prolonged QRS complex duration, sensorineural hearing loss, spiral ligament degeneration, thick interventricular septum, thick ventricular wall