Phenotype #0000304665

Individual ID	00412673
Associated disease	BBS
Phenotype details	best corrected visual acuity: no light perception; retinitis pigmentosa - nyctalopia 20y; optic atrophy, attenuated vessels, gray atrophic retina, diffuse bone spicules, severe maculopathy, mild cortical cataract; intellectual disability: severe; short stature: yes, 146 cm; weight (kg): 86.6; obesity - calculated BMI kg/m2: 40.6; genu valgum: unknown; varum
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome
Age/Examination	48y (48 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-02 09:23:50 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD