3-Methylglutaconic aciduria type 7 (3-MGA type 7) is a rare inherited metabolic disorder caused by a deficiency of the enzyme 3-methylglutaconyl-CoA hydratase (MGCA7). This enzyme is involved in the breakdown of certain fatty acids and amino acids...

3-Methylglutaconic aciduria type 8 (3-MGA type 8) is a rare inherited metabolic disorder caused by a deficiency of the enzyme 3-methylglutaconyl-CoA hydratase (MGCAH). This enzyme is involved in the breakdown of certain fatty acids and amino acids...

3-Methylglutaconic aciduria type 9 (3-MGA type 9) is a rare inherited metabolic disorder caused by a deficiency of the enzyme 3-methylglutaconyl-CoA hydratase (MGCAH). This enzyme is involved in the breakdown of certain fatty acids and amino acids...

3C syndrome is a rare genetic disorder caused by a mutation in the NSD1 gene. It is characterized by craniofacial abnormalities, cardiac defects, and cognitive impairment. Symptoms may include a wide-set eyes, a small jaw, a cleft palate, and hear...

3M syndrome is a rare genetic disorder characterized by short stature, skeletal abnormalities, and facial dysmorphism. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms may include short stature, joint laxity, scolios...

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...