Phenotype #0000308993

Individual ID 00417513
Associated disease BBS
Phenotype details obesity; intellectual disability; renal symptoms: none; retinitis pigmentosa; polydactyly; deafness; no anosmia; atopy; BBS facies; congenital heart disease: hypoplastic left ventricle; fatty liver: unknown; hypogenitalism
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Bardet-Biedl syndrome (BBS)
Age/Examination -
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 2022-09-18 20:43:24 +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.