Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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 Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-02 09:23:50 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.