Phenotype #0000304662

Individual ID	00412670
Associated disease	BBS
Phenotype details	strabismus, best corrected visual acuity right, left eye: 6/12, 6/12; retinitis pigmentosa - nyctalopia 15y; pale optic disk, attenuated vessels, bone spicules in mid-periphery, hypopigmented spots, posterior subcapsular cataract and nuclear, punctate; intellectual disability: moderate; short stature: yes, 157 cm; weight (kg): 78; obesity - calculated BMI kg/m2: 31.6; genu valgum; varum
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome
Age/Examination	28y (28 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