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Boli A-Z Adie Pupil Aging Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alport Syndrome, X-Linked Al-Raqad Syndrome Aniridia 1 Anorexia Nervosa 1 Arthrochalasia Ehlers-Danlos Syndrome Ataxia and Polyneuropathy, Adult-Onset Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus Ataxia-Telangiectasia Autosomal Recessive Disease Blood Group--Ahonen Blood Group, Dombrock System Blood Group, I System Branchiootic Syndrome 1 Cataract Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome Cerebral Atrophy Cerebritis Cerebro-Oculo-Facio-Skeletal Syndrome Cerebrooculofacioskeletal Syndrome 1 Cholestasis Cockayne Syndrome a Cockayne Syndrome B Cockayne Syndrome Type I Cockayne Syndrome Type Ii Cockayne Syndrome Type Iii Congenital Short Bowel Syndrome Cowden Syndrome 1 Craniosynostosis 2 Crouzon Syndrome Discoid Lupus Erythematosus Down Syndrome Dwarfism Dystonia Fanconi Anemia, Complementation Group E Growth Hormone Deficiency Hepatic Adenomas, Familial Herpes Simplex Hyperglycemia Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Ischemia Lipodystrophy Lung Cancer Lupus Erythematosus Microcephaly Mitochondrial Complex V Deficiency, Nuclear Type 1 Multiple Mitochondrial Dysfunctions Syndrome 5 Mutagen Sensitivity Nephrotic Syndrome Neuronitis Neuropathy Neutrophil Actin Dysfunction Parkinsonism with Spasticity, X-Linked Pellagra Pfeiffer Syndrome Radiation Induced Cancer Retinal Degeneration Retinitis Roberts Syndrome Robinow Syndrome Skeletal Dysplasias Sleep Disorder Spasticity Spondyloocular Syndrome Tetralogy of Fallot Three M Syndrome 1 Thrombocytopenia Transient Cerebral Ischemia Tremor Trichothiodystrophy 1, Photosensitive Uv-Sensitive Syndrome Xeroderma Pigmentosum, Complementation Group B Xeroderma Pigmentosum, Complementation Group C Xeroderma Pigmentosum, Complementation Group D Xeroderma Pigmentosum, Complementation Group E Xeroderma Pigmentosum, Complementation Group F Xeroderma Pigmentosum, Complementation Group G Xeroderma Pigmentosum Group E Xeroderma Pigmentosum, Variant Type Xfe Progeroid Syndrome