Distal trisomy 2p is a rare chromosomal anomaly syndrome caused by a partial duplication of the short arm of chromosome 2. Individuals with this condi...

Distal trisomy 2q is a rare chromosomal anomaly that results from the partial duplication of the long arm of chromosome 2. Individuals with this condi...

Distal trisomy 3p is a rare chromosomal anomaly syndrome that arises from a partial duplication of the short arm of chromosome 3. It is primarily char...

Distal trisomy 4q is a rare chromosomal anomaly syndrome that arises from the duplication of the terminal segment of the long arm of chromosome 4. Thi...

Distal trisomy 5q is a chromosomal anomaly syndrome caused by a partial duplication of the long arm of chromosome 5. It is characterized by distinctiv...

Distal trisomy 6p is a congenital chromosomal abnormality in which an extra copy of the far end of the short arm of chromosome 6 is present. Individua...

Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from a partial duplication of the long arm of chromosome 6. It is characterized by...

Distal trisomy 7p is a chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 7. It is characterized by a...

Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from a partial duplication of the long arm of chromosome 8. This condition presents...

Distal trisomy 9q is a chromosomal anomaly resulting from the partial trisomy of the long arm of chromosome 9. It is characterized by a constellation...

Distal Xq28 microduplication syndrome is a rare, hereditary condition that primarily manifests as syndromic intellectual disability, with affected mal...

Distomatosis, also known as distomiasis or fluke infection, is a group of parasitic infections caused by flatworms that live in contact with epithelia...

Diverticulosis of bowel, hernia, and retinal detachment is a syndromic intestinal malformation that combines features of marfanoid habitus with viscer...

DK1-congenital disorder of glycosylation (DK1-CDG) is a rare genetic condition characterized primarily by muscular hypotonia and a skin condition know...

DKC1-related disorder is a type of dyskeratosis congenita, a condition that affects the skin, nails, and other parts of the body. This particular diso...

D,L-2-hydroxyglutaric aciduria is a rare metabolic disorder that is present from birth. It affects how the body processes certain chemicals, leading t...

DMD-related muscular dystrophy is a neuromuscular disorder that affects skeletal and cardiac muscles and is characterized by progressive weakness. Rec...

DNAJC21-related Shwachman Diamond syndrome is a rare condition linked to a change in the DNAJC21 gene. This form of Shwachman Diamond syndrome arises...

DNA ligase IV deficiency, also known as LIG4 syndrome or ligase 4 syndrome, is a hereditary disorder that mainly affects the body’s ability to repair...

DNA repair disease is a condition based on the disruption of DNA repair mechanisms. DNA repair is a natural process in cells that fixes damage in the...