Disease Directory

Chromosome 18q deletion syndrome is a condition resulting from a chromosomal deletion that leads to the loss of genetic material from the long arm of...

Chromosome 19 disorder is a chromosomal condition in which one of the 23 pairs of chromosomes in the body, chromosome 19, is affected. This condition...

Chromosome 19p13.13 deletion syndrome, also known as 19p13.13 microdeletion syndrome, is a rare chromosomal disorder resulting from a partial deletion...

Chromosome 19q13.11 deletion syndrome is a condition caused by a deletion on a segment of chromosome 19 that affects multiple body systems. It is char...

Chromosome 19q13.11 deletion syndrome, distal is a congenital condition resulting from a deletion in the distal region of the long arm of chromosome 1...

Chromosome 19q13.11 deletion syndrome, proximal, is a chromosomal disorder caused by the deletion of the proximal region on chromosome 19q13.11. The c...

Chromosome 1p32-p31 deletion syndrome is a rare chromosomal anomaly resulting from a partial deletion of the short arm of chromosome 1. This condition...

Chromosome 1p35 deletion syndrome is a genetic condition caused by a deletion affecting the short arm of chromosome 1, leading to a constellation of c...

Chromosome 1p36 deletion syndrome is a chromosomal anomaly that affects multiple systems, including the central nervous system and heart. It is charac...

Chromosome 1p36 deletion syndrome, proximal is a condition caused by a deletion affecting a portion of chromosome 1, leading to a complex, multi-syste...

Chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant is a condition that affects multiple organ systems, with prominent inv...

Chromosome 1q deletion is a chromosomal abnormality caused by a missing portion of the long arm of chromosome 1. The clinical features largely depend...

Chromosome 1q21.1 deletion syndrome is a recurrent chromosomal deletion syndrome that presents with a broad range of clinical manifestations, particul...

Chromosome 1q21.1 duplication syndrome is a condition resulting from an extra copy of a small segment on chromosome 1, leading to a range of neurodeve...

Chromosome 1q41-q42 deletion syndrome is a chromosomal anomaly that primarily affects development, leading to severe global developmental delay and in...

Chromosome 2 disorder is a chromosomal condition in which an abnormality involving chromosome 2 is present. Although specific clinical features are no...

Chromosome 20 disorder is a chromosomal condition that involves an abnormality of chromosome 20. It is classified as a chromosomal anomaly rather than...

Chromosome 20 trisomy is a condition where an individual has an extra full or partial copy of chromosome 20 in some or all cells. The mosaic form, in...

Chromosome 21 disorder is a chromosomal abnormality that affects the structure or number of chromosome 21. It is defined by an anomaly involving chrom...

Chromosome 22 disorder is a chromosomal condition in which chromosome 22 is affected. It is defined as a chromosomal disorder, and while the specific...