Bardet-Biedl syndrome 6 (BBS6) is a genetic type of Bardet-Biedl syndrome caused by harmful changes (variants) in a gene called MKKS (also known as BBS6). BBS ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Bardet-Biedl syndrome 5 is a genetic form of Bardet-Biedl syndrome (BBS) that happens when both copies of a person’s BBS5 gene carry harmful changes. BBS is a ...
Bardet–Biedl syndrome (BBS) is a rare, inherited condition that affects “primary cilia,” tiny antenna-like parts on many cells. Faulty cilia disturb signals ...
Bardet-Biedl syndrome type 3 is a rare, inherited condition. It affects many body systems. The main problems are with the eyes, weight, hands and feet, ...
Bardet–Biedl syndrome 3 is a rare, inherited condition that affects many parts of the body. It happens when both copies of a gene called ARL6 (also known as ...
BBS2-related Bardet-Biedl syndrome is a rare, inherited condition that affects many parts of the body. It happens when there are harmful changes (mutations) in ...
Bardet–Biedl Syndrome (BBS) Due to a BBS2 Gene Mutation is a rare, inherited condition that affects the body’s primary cilia, the tiny “antennae” on cells that ...
Bardet–Biedl syndrome 2 is a genetic condition that affects many body systems. It happens when a person inherits harmful changes (variants) in a gene called ...
Bardet-Biedl syndrome caused by mutation in BBS12 is a rare, inherited condition that affects many organs. It is a ciliopathy, which means tiny hair-like parts ...
Bardet–Biedl syndrome caused by mutation in TRIM32 (BBS11) is a rare genetic condition that affects many body systems. It mainly harms the light-sensing cells ...
Bardet-Biedl Syndrome 10 (BBS10) is a genetic condition that belongs to the Bardet-Biedl syndrome (BBS) family. BBS10 happens when both copies of a person’s ...
Bardet-Biedl syndrome 1 (BBS) is a rare, inherited condition that affects many parts of the body. It happens because of changes in genes that guide tiny ...
LMBB (Laurence-Moon–Bardet–Biedl) syndrome is a rare, inherited condition that affects many body systems. It happens because tiny hair-like cell parts called ...
Bardet-Biedl syndrome (BBS) is a rare, inherited condition that affects many body systems because tiny cell parts called cilia do not work properly. Cilia act ...
Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (usually called Barber–Say syndrome) is a very rare genetic condition that affects the outer body ...
Fryns-Aftimos syndrome is a very rare, genetic condition that affects how the face, brain, eyes, and other body systems develop. Many children have a ...
Baraitser-Winter syndrome is a rare genetic condition that mainly affects the brain and the face. Babies and children with BWS often have a recognizable facial ...
BAP1-related tumor predisposition syndrome is an inherited condition that makes a person more likely to develop certain tumors during life. It happens when a ...
Ruvalcaba-Myhre-Smith syndrome is an older name for what doctors today call Bannayan–Riley–Ruvalcaba syndrome (BRRS). BRRS belongs to a family of conditions ...
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic condition. It belongs to a family of disorders called PTEN hamartoma tumor syndrome (PHTS). The main ...
