Phenotype #0000286015

Individual ID	00392769
Associated disease	-
Phenotype details	Epilepsy, dorsal hemangioma, BMI: 26.72, no polydactyly, no intellectual disability, external genital dysplasia, no renal abnormalities, hearing loss, no tooth abnormalities, normal height, no cardiac abnormalities, blood sugar normal, blood pressure normal, lipid levels normal–, best corrected visual acuity right/left eye: 0.02/0.01, fundus: macular atrophy, optic disk pallor, osteocyte cell-like pigment deposition, pattern visual evoked potential: unrecordable, flash visual evoked potential: moderately reduced amplitude, mild delay, full-field flash electroretinography: partial residual rod response, multifocal electroretinography: unrecordab
Diagnosis/Initial	Bardet-Biedl Syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl Syndrome
Age/Examination	30y (30 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