Distal arthrogryposis type 2B1 is a congenital condition primarily affecting the joints of the hands and feet, leading to reduced range of motion and...

Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome that primarily affects the joints of the hands, feet, shoulders, nec...

Distal biliary tract carcinoma is a type of cancer that arises from the common bile duct distal to the insertion of the cystic duct. Currently, no spe...

Distal chromosome 18q deletion syndrome is a chromosomal abnormality that occurs when a segment at the end of the long arm of chromosome 18 is missing...

Distal hereditary motor neuropathy is a condition that primarily affects the peripheral motor nerves, leading to weakness and degeneration in the musc...

Distal hereditary motor neuropathy type 2, also known as dHMN2, dSMA2, or distal spinal muscular atrophy type 2, is a neurological condition that prim...

Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy that primarily affects the distal muscles of the...

Distal monosomy 10p is a chromosomal disorder caused by the deletion of the tip of the short arm of chromosome 10, leading to a wide range of clinical...

Distal monosomy 12p is a rare chromosomal condition caused by the loss of a portion of the short arm of chromosome 12. It is characterized by language...

Distal monosomy 12q is a chromosomal condition resulting from the loss of a terminal segment on the long arm of chromosome 12. This multisystem disord...

Distal monosomy 13q is a chromosomal anomaly syndrome caused by a partial deletion of the long arm of chromosome 13. This condition affects multiple o...

Distal monosomy 14q is a chromosomal anomaly caused by a deletion at the distal end of the long arm of chromosome 14. This condition is associated wit...

Distal monosomy 17q is a very rare chromosomal disorder characterized by multiple congenital abnormalities affecting the craniofacial region, limbs, h...

Distal monosomy 19p13.3 is a chromosomal anomaly caused by a deletion at the far end of the short arm of chromosome 19. It is associated with a wide r...

Distal monosomy 1q is a chromosomal anomaly that results from a deletion at the very end of the long arm of chromosome 1. This condition is characteri...

Distal monosomy 4q is a chromosomal disorder characterized by the deletion of a segment from the distal (end) portion of the long arm of chromosome 4....

Distal monosomy 7p is a genetic condition caused by the deletion of a segment at the end of the short arm of chromosome 7. This chromosomal alteration...

Distal monosomy 7q36 is a rare chromosomal anomaly syndrome caused by a partial deletion of the long arm of chromosome 7. The condition affects multip...

Distal monosomy 9p is a rare chromosomal anomaly syndrome caused by a partial deletion at the end of the short arm of chromosome 9. The condition affe...

Distal myopathy is a group of muscle disorders primarily affecting the distal muscles of the hands and feet, where weakness and muscle atrophy begin....