Genetic disorders database

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  • Duplication of X chromosome at 21.1

  • 15Q11.2 Duplication 15Q11.2 Duplication

    an extra piece of DNA spanning a particular region on Chromosome 15.Research suggests that this additional DNA can alter cellular function, is associated with subtle changes in brain structure, and may increase risk for autism and other neuro development disorders. Outcomes are highly variable from carrier to carrier; some individuals show no neuro development issues whereas others are severely impacted.

  • 16q 22.1 deletion syndrome 16q 22.1 deletion syndrome

    A chromosome 16 deletion is a rare genetic condition in which part of the genetic material is missing that makes up chromosome 16, one of the body’s 46 chromosomes. Like most other chromosome disorders, this increases the risk of birth defects, developmental delay and learning difficulties.

  • 1q21.1 duplication 1q21.1 duplication

    A 1q21.1 microduplication is a very rare genetic condition in which a tiny extra piece of one of the chromosomes is found in the cells of the body. The tiny extra bit increases the risk of learning and development difficulties. But there is wide individual variation. People with a 1q21.1 microduplication range from people with no symptoms to others with developmental delay and health problems.

  • 1q43 duplication 1q43 duplication

    Duplications including 1q43 involve having extra material on one of the body’s 46 chromosomes. Generally speaking, having extra chromosome material increases the chance of problems such as birth defects and growth and developmental delay. With 1q duplications the picture depends on exactly what chromosome material is duplicated and whether any material has been lost or duplicated on another chromosome as well.

  • 22q11.2 duplication 22q11.2 duplication

    Tiny extra bit of chromosome 22. Any effects of having this extra bit of chromosome 22 appear to be generally mild and highly variable, even within the same family.

  • 3p25 microdeletion 3p25 microdeletion

    Genetic condition that is very variable but can include learning difficulties, global development delay, speech delay/difficulties.

  • 3q29 micro deletion 3q29 micro deletion

    Each affected person will have different medical and developmental concerns. These concerns include: Usually healthy, without major birth defects Some speech delay Considerable differences between individuals in terms of learning ability Small head A delay in sitting and walking In around one third, features of autism

  • 4q deletion syndrome 4q deletion syndrome

  • Aarskog Syndrome Aarskog Syndrome

    Aarskog syndrome is an extremely rare genetic disorder marked by growth restriction that may not become obvious until the child is about three years of age. Aarskog syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition.

  • Acquired partial lipodystrophy syndrome Acquired partial lipodystrophy syndrome

    An extremely rare form of lipodystrophy and linked to severe metabolic complications.Females are affected more than men and fat loss usually starts during childhood or adolescence and may follow an acute viral infection such as measles. Many disorders are associated with acquired partial lipodystrophy as well as a susceptibility to bacterial infections.

  • Acrodysostosis Acrodysostosis

    AcroD is a rare genetic disorder affecting the growth of bones, causes learning disabilities can affect hearing and in some cases sight. Most cases in families are from a new mutation but in a few cases it is inherited

  • ALD. ALD.

    ALD is caused by a genetic fault that means those affected are unable to process Very Long Chain Fatty Acids (VLCFAs).These VLCFAs accumulate and destroy the myelin sheath that covers the nerves in the body and brain. Leading to brain damage and death.

  • ALSTROM SYNDROME ALSTROM SYNDROME

    Alström syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life.

  • Angelman Syndrome Angelman Syndrome

    Angelman Syndrome is a neurogenetic disorder affecting around 1 in 12-24,000 live births. It is caused by one of several different types of disruptions to a region of chromosome 15, specifically the single gene, UBE3A.

  • Ataxia-telangiectasia Ataxia-telangiectasia

    A-T is a progressive, life-limiting, multi-system disorder caused by mutatations to the ATM gene. Children become increasingly disabled by ataxia and other neurological disorders and often by immunological problems, which over time lead to lung disease. There is a high risk of cancer, which can develop at any age. Prevalence is around 1 in 300,000. A small proportion of people have a mild-variant of A-T where the symptoms may be less pronounced and slower to develop.

  • ATR-X syndrome ATR-X syndrome

    Males with alpha thalassemia X-linked intellectual disability syndrome have intellectual disability and delayed development. Their speech is significantly delayed, and most never speak or sign more than a few words. Most affected children have weak muscle tone, which delays motor skills such as sitting, standing, and walking. Some people with this disorder are never able to walk independently.

  • Axenfeld-Reiger Syndrome Axenfeld-Reiger Syndrome

    Developmental disorder where the fetus doesn't develop properly in the womb. Causes glaucoma, digestive problems, heart conditions, learning difficulties amongst others

  • Barth Syndrome Barth Syndrome

    Barth syndrome affects the heart, muscles, growth and the immune system. It affects boys and men.

  • Beals-Hecht Syndrome Beals-Hecht Syndrome

    A sister condition to Marfans.

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