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...

46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare genetic disorder caused by a mutation in the CYP17A1 gene. This gene is responsible for producing the enzyme 17,20-lyase, which is involved in the production of sex...

46,XY disorder of sex development due to testicular 17,20-desmolase deficiency is a rare genetic disorder caused by a mutation in the CYP17A1 gene. This gene is responsible for producing the enzyme 17,20-desmolase, which is necessary for the produ...

46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency is a rare genetic disorder caused by a mutation in the CYP11A1 gene. This gene is responsible for the production of an enzyme called cytochrome P450, which is involv...

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare genetic disorder characterized by the absence of functional gonads in males, along with motor and sensory neuropathy. Symptoms may include infertility, delayed puberty, and m...

46,XY ovotesticular disorder of sex development (46,XY DSD) is a rare condition in which an individual has both ovarian and testicular tissue. This condition is also known as ovotesticular disorder of sex development, true hermaphroditism, or 46,X...

47,XYY syndrome is a chromosomal disorder that occurs when a male has an extra Y chromosome. It is a rare condition, occurring in only 1 in 1,000 live male births. Symptoms may include tall stature, learning disabilities, and behavioral problems....

48,XXXY syndrome is a rare chromosomal disorder caused by the presence of an extra X chromosome in each of a male's cells. It is also known as triplo-X syndrome or trisomy X. Symptoms of 48,XXXY syndrome can include delayed physical and mental dev...