Phenotype #0000286016

Individual ID	00392770
Associated disease	-
Phenotype details	BMI: 29.05, no polydactyly, no intellectual disability, external genital dysplasia, no renal abnormalities, hearing loss, no tooth abnormalities, normal height, high sinus heart rate, blood sugar normal, blood pressure slightly elevated, lipid levels normal–, best corrected visual acuity right/left eye: light perception/light perception, fundus: macular atrophy, optic disk pallor, osteocyte cell-like pigment deposition, pattern visual evoked potential: unrecordable, flash visual evoked potential: severely reduced amplitude, without delay, full-field flash electroretinography: unrecordable, multifocal electroretinography: unrecordab
Diagnosis/Initial	Bardet-Biedl Syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl Syndrome
Age/Examination	29y (29 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