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User:P J McGill/Genetic Disorder Table

From Wikipedia, the free encyclopedia
Disorder Prevalence Gene Mutation Systems Affected Symptoms Survival Rate Treatment
Aniridia 1 in 50,000 to 100,000 newborns worldwide PAX6 Vision Lack of iris. Other conditions can include glaucoma, foveal hypoplasia, nystagmus, strabismus, dry eye, corneal degeneration, and cataracts Non-lethal tinted or photochromic lenses to reduce light sensitivity
Asymmetric crying facies 1 in 160 live births 22q11.2 deletion syndrome depressor anguli oris muscle (facial) agenesis or hypoplasia causing a weakness seen during smiling or crying Non-lethal No treatment needed
Morquio Syndrome 1 in 200,000 Musculoskeletal, Metabolic Abnormal heart and skeletal development. Short limbs. Corneal Clouding Non-lethal Enzyme replacement
Wolfram 1 in 500,000 WFS1 (type 1) and CISD2 (type 2) Metabolic, optic, neurologic Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness Reduced lifespan Diabetic treatment, symptom mitigation