Phenotype #0000286013

Individual ID	00392767
Associated disease	-
Phenotype details	Epilepsy, dorsal hemangioma, BMI: 19.53, no polydactyly, intellectual disability, no gonadal abnormalities, no renal abnormalities, no hearing loss, tooth abnormalities, normal height, no cardiac abnormalities, blood sugar normal, blood pressure normal, lipid levels normal, strabismus, best corrected visual acuity right/left eye: 0.05/0.2, fundus: macular atrophy, optic disk pallor, osteocyte cell-like pigment deposition, pattern visual evoked potential: severely decreased amplitude and moderate delay peak time, flash visual evoked potential: moderately reduced amplitude, mild delay, full-field flash electroretinography: unrecordable, multifocal electroretinography: unrecordable
Diagnosis/Initial	Bardet-Biedl Syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl Syndrome
Age/Examination	13y (13 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