Abnormality of the face, Abnormality of the kidney, Abnormality of the metaphysis, Abnormality of the middle ear ossicles, Abnormality of the musculature, Abnormality of the orbital region, Abnormality of the skin, Abnormality of visual evoked potentials, Amaurosis fugax, Aphasia, Arachnoid cyst, Atherosclerosis, Atresia of the external auditory canal, Behavioral abnormality, Benign neoplasm of the central nervous system, Biconcave vertebral bodies, Bicuspid aortic valve, Bone cyst, Cerebral cortical atrophy, Cerebral ischemia, Chiari malformation, Chiari type I malformation, Chondrocalcinosis, Coarse hair, Coma, Conductive hearing impairment, Confusion, Cranial nerve paralysis, Craniofacial hyperostosis, Cryptorchidism, Dementia, Dental crowding, Depression, Developmental regression, Dolichocephaly, Downslanted palpebral fissures, Dural ectasia, EEG abnormality, Elevated circulating creatine kinase concentration, Epicanthus, Fever, Fibroma, Gait disturbance, Generalized hypotonia, Gingival fibromatosis, Global developmental delay, Headache, Hearing impairment, Hemiplegia, Hemiplegia/hemiparesis, High palate, High, narrow palate, Hypercalcemia, Hyperlordosis, Hypertelorism, Hypertension, Hypoglycemia, Hypotonia, Impaired pain sensation, Intestinal obstruction, Iris coloboma, Irregular hyperpigmentation, Joint hypermobility, Kyphosis, Leukoencephalopathy, Limitation of joint mobility, Long philtrum, Low posterior hairline, Low-set ears, Malar flattening, Memory impairment, Meningocele, Micrognathia, Migraine, Motor delay, Narrow face, Neoplasm of the lung, Neoplasm of the pancreas, Neoplasm of the skin, Nonarteritic anterior ischemic optic neuropathy, Osteolysis, Patent ductus arteriosus, Pectus excavatum, Peripheral neuropathy, Platybasia, Posteriorly rotated ears, Prominent metopic ridge, Proptosis, Pseudobulbar paralysis, Ptosis, Recurrent pneumonia, Recurrent subcortical infarcts, Retinal arteriolar tortuosity, Sarcoma, Sclerosis of skull base, Scoliosis, Seizure, Sensorineural hearing impairment, Sensory neuropathy, Short nasal bridge, Short neck, Short stature, Skin ulcer, Smooth philtrum, Spasticity, Stroke, Subcortical dementia, Subcutaneous hemorrhage, Subcutaneous nodule, Subdural hemorrhage, Syringomyelia, Tracheoesophageal fistula, Umbilical hernia, Urinary incontinence, Varicose veins, Ventricular septal defect, Vertebral fusion, Visual impairment, Visual loss, Wormian bones, obsolete Joint hyperflexibility

abnormal retina blood vessel morphology, abnormal vascular resistance, abnormal vascular smooth muscle morphology, behavior/neurological phenotype, cardiovascular system phenotype, decreased bone trabecula number, decreased bone volume, decreased exploration in new environment, decreased liver weight, decreased lung weight, decreased mammary gland epithelial cell proliferation, decreased prepulse inhibition, decreased thymocyte number, decreased trabecular bone connectivity density, decreased trabecular bone volume, enlarged lymph nodes, hunched posture, improved glucose tolerance, increased T cell derived lymphoma incidence, increased acute lymphoblastic leukemia incidence, increased bone ossification, increased cerebral infarct size, increased double-negative T cell number, increased lean body mass, increased lymphoblastic lymphoma incidence, increased or absent threshold for auditory brainstem response, increased osteoblast cell number, increased osteoblast proliferation, increased osteoclast cell number, increased osteocyte number, increased sensitivity to induced morbidity/mortality, increased susceptibility to ischemic brain injury, increased thymocyte number, nervous system phenotype, no abnormal phenotype detected, paresis, poor arterial differentiation, premature death, small thymus