17q23.1q23.2 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific region of chromosome 17. It is characterized by intellectual disability, developmental delays, and physical ...

17q24.2 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific region of chromosome 17. It is characterized by a wide range of physical and developmental features, including in...

19p13.12 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 19. It is characterized by a wide range of physical and developmental features, including intellectual disability, d...

19p13.13 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 19. It is characterized by a wide range of physical and developmental features, including intellectual disability, d...

19p13.3 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the short arm of chromosome 19. It is characterized by a wide range of physical and developmental features, including intellectual di...

19q13.11 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific location on chromosome 19. It is characterized by intellectual disability, developmental delays, and physical ab...

1p21.3 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 1. It is characterized by a wide range of physical and developmental features, including intellectual disability, dela...

1p31p32 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 1. It is characterized by a wide range of physical and developmental abnormalities, including intellectual disability...

1p35.2 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 1. It is characterized by intellectual disability, developmental delays, and physical abnormalities. Symptoms can vary...

1p36 deletion syndrome facts Introduction to the 1p36 deletion syndrome – how individuals get chromosomes with missing DNA 1p36 deletion syndrome stands for the following: 1 is the chromosome number that has deleted ...

1p36 deletion syndrome is a rare genetic disorder caused by the deletion of a small piece of chromosome 1. It is characterized by a wide range of physical and developmental problems, including intellectual disability, delayed development, seizures...

1q21.1 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific location on chromosome 1. It is characterized by a wide range of physical and developmental features, including in...

1q21.1 microduplication syndrome is a rare genetic disorder caused by an extra copy of genetic material on the long arm of chromosome 1. It is characterized by a wide range of physical and developmental features, including intellectual disability,...

1q41q42 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from the long arm of chromosome 1. It is characterized by a wide range of physical and developmental abnormalities, including int...

1q44 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the long arm of chromosome 1. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Other feature...

2-Aminoadipic 2-oxoadipic aciduria is an inherited disorder caused by a deficiency of the enzyme 2-aminoadipic acid oxidase. This enzyme is responsible for breaking down the amino acid 2-aminoadipic acid, which is found in proteins. Without this e...

2-Methylbutyryl-CoA dehydrogenase deficiency is an inherited disorder that affects the body's ability to break down certain amino acids. It is caused by a deficiency in the enzyme 2-methylbutyryl-CoA dehydrogenase, which is responsible for breakin...