3MC syndrome is a rare genetic disorder that affects the development of multiple body systems. It is characterized by malformations of the head and face, skeletal abnormalities, and intellectual disability. It is caused by a mutation in the gene t...

3p25.3 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 3. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Other feat...

3q13 microdeletion syndrome is a rare genetic disorder caused by a small deletion of genetic material on the long arm of chromosome 3. It is characterized by a variety of physical and developmental abnormalities, including intellectual disability,...

3q26 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the long arm of chromosome 3. It is characterized by a variety of physical and developmental features, including intellectual disability...

3q26q27 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the long arm of chromosome 3. It is characterized by intellectual disability, developmental delays, and physical abnormalities. Symptoms can vary...

3q27.3 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific region of chromosome 3. It is characterized by intellectual disability, developmental delays, and physical abnorma...

3q29 microdeletion syndrome is a rare genetic disorder caused by a small deletion of genetic material on the long arm of chromosome 3. It is characterized by intellectual disability, developmental delays, speech and language delays, and behavioral...

3q29 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the long arm of chromosome 3. It is characterized by intellectual disability, developmental delays, and behavioral problems. Other featu...

Mixed gonadal dysgenesis (MGD) is a rare disorder of sexual development in which a person has both ovarian and testicular tissue. It is also known as 45,X/46,XY mosaicism. People with MGD have a single X chromosome and a single Y chromosome, but t...

46,XX disorder of sex development-anorectal anomalies syndrome is a rare genetic disorder that affects the development of the reproductive organs and the anus. It is caused by a mutation in the SRY gene, which is responsible for the development of...

46,XX disorder of sex development-skeletal anomalies syndrome is a rare genetic disorder that affects the development of the reproductive system and skeletal system. It is caused by a mutation in the SRY gene, which is responsible for the developm...

46,XX ovarian dysgenesis-short stature syndrome is a rare genetic disorder that affects the development of the reproductive system in females. It is characterized by the absence of ovaries, short stature, and other physical abnormalities. It is ca...

46,XX ovotesticular disorder of sex development (46,XX DSD) is a rare condition in which a person has both ovarian and testicular tissue. People with this condition typically have external genitalia that do not look clearly male or female (ambiguo...

46,XX testicular disorder of sex development (46,XX DSD) is a rare condition in which a person with two X chromosomes in each cell has male physical characteristics. It is caused by a genetic mutation that results in the body producing hormones no...

46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency is a rare genetic disorder caused by a mutation in the HSD17B3 gene. This gene is responsible for producing an enzyme called 17-beta-hydroxysteroid dehydrog...

46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency is a genetic condition that affects sexual development. It is caused by a mutation in the SRD5A2 gene, which encodes the enzyme 5-alpha-reductase 2. This enzyme is responsible...