X Linked semi dominant inheritance

The Coffin-Lowry gene (RPS6KA3) is located on the X chromosome (Xp22.2). Girls may express symptoms of CLS.

Most of the persons with CLS are the only one in their family. In about 20-30% of the cases, there is more than one family member affected. If possible, the diagnosis should be confirmed with a molecular diagnosis.

Last modified
21 February 2020
HPO
HP:0001423 X linked dominat
Feature

X linked family history

Some diseases only, or mainly, effect males. This occurs when the abnormal gene is on the X chromosome. Because men have one X chromosome and...

Rare Condition

Coffin Lowry Syndrome

Coffin Lowry syndrome is a rare genetic disorder characterized by

  • mental retardation;
  • abnormalities of the head and facial (craniofacial) area;
  • large, soft hands with short...