490 results

... lead to dislocations, and protrusion of organs through gaps in muscles (hernias). ... syndrome typically have a particular pattern of facial features ...

... unusually small eyeballs (microphthalmia), no eyeballs (anophthalmia), a gap or split in ... syndrome. Many affected individuals have a split in the ...

... have other distinctive features, including larger than normal gaps between the ... often have excessive hairiness (hypertrichosis) that usually disappears ...

... the medical literature. The classic form of Vohwinkel syndrome is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin ...

... common among people of French-Canadian descent. Clouston syndrome is caused by mutations in the GJB6 gene. This gene provides instructions for making a protein called gap junction beta 6, more commonly known as connexin ...

... unknown. Approximately 100 cases have been reported. KID syndrome is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin ...

The CLIP2 gene provides instructions for making a protein called CAP-Gly domain containing linker protein 2. The protein is also known as CLIP-115. This ...

... ARHGAP31 gene are known to cause Adams-Oliver syndrome, a condition ... than normal. The increased GAP activity leads to a reduction in Cdc42 and ...

... threatening breathing problems. A common defect is a gap between the trachea ... G/BBB syndrome have genital abnormalities such as the urethra opening ...

... cause vision loss, and coloboma, which is a gap or split in a structure of the ... features of Joubert syndrome and one or more of these additional signs ...