ACMG/AMP	American College of Medical Genetics and Genomics/Association for Molecular Pathology
BBS	Bardet–Biedl syndrome
BMI SDS	Body Mass Index Standard Deviation Score
BCVA	Best-corrected visual acuity
CDS	Coding DNA sequence
ENM	Elastic Network Model
ERG	Electroretinography
Hh	Hedgehog signaling pathway
HGMD	Human Gene Mutation Database
IFT	Intraflagellar transport
NMA	Normal Mode Analysis
PM	Pathogenic Moderate
PP	Pathogenic Supporting
RPE	Retinal Pigment Epithelium
SD-OCT	Spectral-Domain Optical Coherence Tomography
Smo	Smoothened; transmembrane receptor component of the Hedgehog signaling pathway localized in primary cilia.
VUS	Variants of Uncertain Significance