| 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 |
