5-oxoprolinase deficiency is a rare genetic disorder caused by a deficiency of the enzyme 5-oxoprolinase. This enzyme is responsible for breaking down the amino acid glutamate, which is found in many foods. People with this disorder are unable to ...

5p13 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the short arm of chromosome 5. It is characterized by a variety of physical and developmental features, including intellectual disabilit...

5q14.3 microdeletion syndrome is a rare genetic disorder caused by a deletion of a small piece of genetic material on the long arm of chromosome 5. It is characterized by intellectual disability, developmental delays, and physical abnormalities. S...

5q35 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the long arm (q) of chromosome 5. It is characterized by a wide range of physical and developmental features, including intellectual dis...

6-phosphogluconate dehydrogenase deficiency is an inherited disorder caused by a mutation in the G6PD gene. This gene provides instructions for making an enzyme called glucose-6-phosphate dehydrogenase (G6PD). This enzyme helps protect red blood c...

6p22 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 6. It is characterized by a wide range of physical and developmental features, including intellectual disability, delaye...

6q terminal deletion syndrome is a rare genetic disorder caused by a deletion of genetic material from the long arm (q) of chromosome 6. It is characterized by a wide range of physical and developmental abnormalities, including intellectual disabi...

6q16 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from the long arm of chromosome 6. It is characterized by a variety of physical and developmental abnormalities, including intellect...

6q25 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the long arm (q) of chromosome 6. It is characterized by a wide range of physical and developmental features, including intellectual disability, del...

7p22.1 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the short arm of chromosome 7. It is characterized by a variety of physical and developmental features, including intellectual disabil...

7q11.23 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the long arm of chromosome 7. It is characterized by a wide range of physical and developmental features, including intellectual disa...

7q31 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the long arm (q) of chromosome 7. It is characterized by a variety of physical and developmental abnormalities, including intellectual disability, d...

8p inverted duplication/deletion syndrome is a rare genetic disorder caused by a chromosomal abnormality. It is caused by a rearrangement of genetic material on the short arm of chromosome 8, resulting in an inverted duplication or deletion of gen...

8p11.2 deletion syndrome is a rare genetic disorder caused by a deletion of genetic material from a specific region of chromosome 8. It is characterized by a variety of physical and developmental abnormalities, including intellectual disability, d...

8p23.1 duplication syndrome is a rare genetic disorder caused by a duplication of a small section of chromosome 8. It is characterized by a variety of physical and developmental abnormalities, including intellectual disability, delayed development...

8p23.1 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 8. It is characterized by a wide range of physical and developmental features, including intellectual disability, dela...

8q12 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the long arm of chromosome 8. It is characterized by a wide range of physical and developmental features, including intellectual disabil...