Baller-Gerold syndrome is a very rare condition characterized by the premature fusion of skull sutures (craniosynostosis) in association with upper li...

Balo concentric sclerosis is a rare form of multiple sclerosis that manifests with tumor-like brain lesions larger than two centimeters and produces s...

Bamforth-Lazarus syndrome is a very rare congenital disorder affecting the endocrine and skeletal systems, characterized primarily by congenital hypot...

Band heterotopia of brain is a neurodevelopmental condition that affects the structure of the brain, leading to abnormal neuronal organization. It is...

Band keratopathy is characterized by the deposition of calcium in the cornea, leading to pain and decreased visual acuity. The inheritance pattern is...

Bangstad syndrome is a rare endocrine condition that was first described over 30 years ago. It is noted for a unique combination of features including...

Banki syndrome is a synostosis syndrome characterized by the fusion anomalies of carpal and digital bones, including lunotriquetral synostosis, clinod...

Bannayan-Riley-Ruvalcaba syndrome is a congenital disorder that affects multiple organ systems, particularly the gastrointestinal tract, skin, nervous...

BAP1-related tumor predisposition syndrome is an inherited condition that increases the risk of developing several types of cancer. It is linked to ha...

Baraitser-Winter cerebrofrontofacial syndrome is a congenital malformation disorder characterized by distinctive craniofacial features, brain malforma...

Baraitser-Winter syndrome 1 is a congenital disorder characterized by distinctive craniofacial features and neurodevelopmental challenges, with many a...

Baraitser-winter syndrome 2 is a congenital condition affecting the nervous system, craniofacial structures, and growth, and is characterized by multi...

Barber-Say syndrome is a rare ectodermal dysplasia that primarily affects the skin and facial structures, with symptoms evident from the neonatal peri...

BARD1-related cancer predisposition is a hereditary condition caused by variations in the BARD1 gene. These gene changes increase the risk of developi...

Bardet-Biedl syndrome is a multisystem ciliopathy primarily affecting the eyes and other organ systems. It is characterized by rod-cone dystrophy alon...

Bardet-Biedl syndrome 1 is a multisystem condition primarily affecting the eye, endocrine system, nervous system, musculature, and skeletal system. It...

Bardet-Biedl syndrome 10 is a multisystem disorder that affects the nervous system, eyes, and musculature. It is caused by mutations in the BBS10 gene...

Bardet-Biedl syndrome 11 is an inherited condition characterized by a mutation in the TRIM32 gene, which plays a role in various cellular processes. I...

Bardet-Biedl syndrome 12 is a multisystem condition that primarily affects the genitourinary system and elements of the musculoskeletal system. It is...

Bardet-Biedl syndrome 13 is a multisystem condition that affects the eyes, nervous system, skeletal system, and musculature. It is caused by pathogeni...