Phenotype #0000304663

Individual ID	00412671
Associated disease	BBS
Phenotype details	strabismus, uncorrected visual acuity: 6/60, 6/120; retinitis pigmentosa - nyctalopia 13y; pale optic disk, attenuated vessels, bone spicules in mid-periphery, hypopigmented spots, posterior subcapsular cataract; intellectual disability: moderate; short stature: yes, 163 cm; weight (kg): 98; obesity - calculated BMI kg/m2: 36.9; genu valgum; varum
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome
Age/Examination	24y (24 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