Disease Directory

16q24.1 microdeletion syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

16q24.3 microdeletion syndrome is a recently described condition where a small piece of chromosome 16 is missing. This change in the chromosome can be...

17q11.2 microduplication syndrome is a genetic condition that is primarily characterized by dysmorphic features, which means that individuals may have...

17q24.2 microdeletion syndrome is a rare genetic disorder that causes several congenital malformations and developmental problems. People with this co...

19p13.12 microdeletion syndrome is a newly described condition. People with this syndrome often experience moderate to severe developmental delays and...

19p13.3 microduplication syndrome is a rare genetic condition that affects development. It is described as a syndromic intellectual disability where p...

1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly. This condition is characterized by severe speech and language delay, intellect...

Information about overview is currently limited for this condition.

1q44 microdeletion syndrome is a rare condition caused by a small loss of genetic material on chromosome 1q44. It is a newly described syndrome that i...

2-aminoadipic 2-oxoadipic aciduria is a rare metabolic disorder that affects how certain amino acids are processed in the body. The condition is also...

2-hydroxyglutaric aciduria is a group of neurometabolic disorders that affect the body in different ways. People with this condition can show a wide r...

2-methylacetoacetyl CoA thiolase deficiency is a rare disease. Detailed information about this condition is currently limited in medical literature.

2-methylbutyryl-CoA dehydrogenase deficiency, also known as SBCAD deficiency or 2-methylbutyric aciduria, is a rare genetic condition that affects how...

20p12.3 microdeletion syndrome is a recently described condition. It is known to include Wolff-Parkinson-White syndrome, variable developmental delay,...

20p13 microdeletion syndrome is a rare chromosomal anomaly that results from a deletion in the short arm of chromosome 20 at the p13 region. People wi...

20q11.2 microdeletion syndrome is a rare genetic condition characterized by intellectual disability and a range of physical features. People with this...

20q11.2 microduplication syndrome is a rare chromosomal anomaly caused by a partial duplication of the long arm of chromosome 20. People with this con...

20q13.33 microdeletion syndrome is a rare genetic condition caused by the partial deletion of the long arm of chromosome 20. This condition has a high...

Information about overview is currently limited for this condition.

22q-related schwannomatosis is a condition where people have a higher chance of developing multiple schwannomas, which are tumors that grow on the ner...