Phenotype #0000304666

Individual ID	00412674
Associated disease	BBS
Phenotype details	strabismus, best corrected visual acuity right, left eye: hand motion 15cm, light perception; retinitis pigmentosa - nyctalopia 28y; optic atrophy, attenuated vessels, gray atrophic retina, diffuse coarse pigment clumps &bone spicules, macular edema, mild posterior subcapsular cataract; intellectual disability: severe; short stature: yes, 149 cm; weight (kg): 62; obesity - calculated BMI kg/m2: no, but overweight - 27.9; genu valgum; varum
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome
Age/Examination	47y (47 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