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 Creative Commons Attribution 4.0 InternationalCreative Commons License
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.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.