Disease Directory

Chromosome 22, monosome mosaic refers to a condition in which a mosaic pattern is observed for chromosome 22, meaning that some cells in the body cont...

Chromosome 22q deletion refers to the loss of a portion of the long arm of chromosome 22. This condition arises from a chromosomal deletion rather tha...

Chromosome 22q11.2 deletion syndrome, distal, is a multi-system condition caused by the loss of a small segment of genetic material on the long arm of...

Chromosome 22q11.2 microduplication syndrome is a condition characterized by a duplication of a specific region on chromosome 22, which is the same re...

Chromosome 22q13 duplication syndrome is a condition arising from an extra copy of genetic material in the terminal region of chromosome 22q13, primar...

Chromosome 2p12-p11.2 deletion syndrome is a condition resulting from a deletion in a specific segment of chromosome 2 that leads to a constellation o...

Chromosome 2p16.1-p15 deletion syndrome is a recently recognized condition primarily characterized by significant developmental challenges and distinc...

Chromosome 2p16.3 deletion syndrome is a condition arising from a small deletion on the short arm of chromosome 2. Although detailed information is st...

Chromosome 2q31.1 duplication syndrome is a genetic condition characterized by a duplication in the region of chromosome 2q31.1. This disorder is clas...

Chromosome 2q31.2 deletion syndrome is a condition resulting from a chromosomal deletion at the 2q31.2 region, with potential effects on multiple body...

Chromosome 2q32-q33 deletion syndrome is a multisystem neurodevelopmental condition caused by the loss of genetic material that includes the SATB2 gen...

Chromosome 3 disorder is a chromosomal abnormality in which chromosome 3 is affected. The condition is defined by changes at the chromosomal level, an...

Chromosome 3 duplication syndrome is a condition thought to result from an extra copy of a segment on chromosome 3. Although the precise genetic basis...

Chromosome 3q13.31 deletion syndrome is a rare chromosomal anomaly caused by a partial deletion in the long arm of chromosome 3. This condition is cha...

Chromosome 3q29 microdeletion syndrome is a condition caused by a small deletion near the end of chromosome 3 that leads to variable clinical manifest...

Chromosome 3q29 microduplication syndrome is a chromosomal abnormality characterized by a small duplication on the long arm of chromosome 3 that leads...

Chromosome 4 disorder is a condition characterized by an abnormality in chromosome 4. As a chromosomal disorder, it affects the structure or number of...

Chromosome 4 short arm deletion is a chromosomal abnormality in which a portion of the short arm of chromosome 4 is missing. This condition is associa...

Chromosome 4Q32.1-q32.2 triplication syndrome is a condition caused by an extra copy of a segment on chromosome 4, affecting multiple body systems, pa...

Chromosome 4q21 deletion syndrome, also known as 4q21 microdeletion syndrome, is a condition characterized by a deletion in the long arm of chromosome...