| criduchat | | causes part of the spinal cord to stick out from the back of the body |
| cysticfibrosis | | can be diagnosed by looking at the number of X chromosomes in a person's karyotype |
| hypothyroidism | | blood clotting disorder |
| spinabifida | | caused by a deletion of a portion of chromosome #15 |
| triplexsyndrome | | XXY |
| Klinefelterssyndrome | | can be treated by giving the patient thyroid hormone |
| smith-lemli-opitz syndrome | | causes a variety of symptoms including a feeling of starving that can lead to excessive eating and obesity |
| praderwillisyndrome | | severe combined immune deficiency syndrome |
| scid | | causes a sticky mucus in the lungs and digestive system making it hard to breath and digest food |
| williamssyndrome | | causes infants to have abnormally small heads and problems with the eyes |
| sicklecellanemia | | one of the most common brain diseases of babies where brain turns spongy |
| coloncancer | | causes malignant cells to form in large intestine |
| hemophilia | | causes the red blood cells to be shaped abnormally so they cannot carry oxygen to the organs properly |
| canavandisease | | caused by a deletion of chromosome #7 and causes mental retardation and a distinct facial appearance |
| achondroplasia | | high pitched cry sounds like a cat |
| angelmansyndrome | | scientific name for dwarfism |