Phenotype #0000286012

Individual ID	00392766
Associated disease	-
Phenotype details	BMI: 33.2, polydactyly, intellectual disability, no gonadal abnormalities, no renal abnormalities, hearing loss, tooth abnormalities, short stature, no cardiac abnormalities, blood sugar normal, blood pressure normal, lipid levels normal, nystagmus, cataract, best corrected visual acuity right/left eye: counting fingers/hand movement, fundus: macular atrophy, optic disk pallor, osteocyte cell-like pigment deposition, pattern visual evoked potential: unrecordable, flash visual evoked potential: severely 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	21y (21 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