Phenotype #0000286023

Individual ID	00392777
Associated disease	-
Phenotype details	BMI: 30.42, polydactyly, no intellectual disability, no gonadal abnormalities, renal cyst, no hearing loss, no tooth abnormalities, normal height, no cardiac abnormalities, blood sugar normal, blood pressure normal, lipid levels slightly elevated–, best corrected visual acuity right/left eye: 0.2/0.1, fundus: macular atrophy, optic disk pallor, osteocyte cell-like pigment deposition, pattern visual evoked potential: –, flash visual evoked potential: –, full-field flash electroretinography: unrecordable, multifocal electroretinography: unreco
Diagnosis/Initial	Bardet-Biedl Syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl Syndrome
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	0m
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-11-24 15:01:28 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD