Arms and legs

6

Short foot, Radial deviation of finger, Broad foot

Hormones

5

Nephrogenic diabetes insipidus, Diabetes mellitus, Insulin resistance

Digestive system

3

Abdominal obesity, Liver scarring (fibrosis) (hepatic fibrosis), Biliary tract abnormality

Head and neck

3

High, narrow palate, High palate, Macrocephaly

Kidneys and urinary system

2

Nephrogenic diabetes insipidus, Abnormality of the kidney

Bones and joints

2

Bone spicule pigmentation of the retina, Sideways curvature of the spine (scoliosis)

Heart and blood vessels

2

Hypertension, Thickened left heart wall (left ventricular hypertrophy)

Ears

1

Hearing loss (hearing impairment)

Skin

1

Dermatochalasis

Lungs and breathing

1

Asthma

[NCT02329210](https://clinicaltrials.gov/study/NCT02329210)

Clinical Registry Investigating Bardet-Biedl Syndrome

—

Marshfield Clinic Research Foundation

RECRUITING

[NCT07269665](https://clinicaltrials.gov/study/NCT07269665)

First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration

EARLY_PHASE1

Axovia Therapeutics

UNKNOWN

[NCT04461444](https://clinicaltrials.gov/study/NCT04461444)

COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study

NA

University Hospital, Strasbourg, France

RECRUITING

[NCT06239064](https://clinicaltrials.gov/study/NCT06239064)

Early Genetic Identification of Obesity

—

Rolfs Consulting und Verwaltungs-GmbH (RCV)

ACTIVE_NOT_RECRUITING