Phenotype #0000304668

Individual ID	00412676
Associated disease	BBS
Phenotype details	suspected retinitis pigmentosa - fixes and follows objects, small optic disk with mild pallor, grayish retinal discoloration in mid-periphery; intellectual disability: moderate; short stature: yes, percentile 3-5% (129 cm; weight (kg): 29.5 (percentile 25-50%); obesity - calculated BMI kg/m2: BMI-for-age at the 68th percentile; genu valgum; varum
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome
Age/Examination	10y (10 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