Phenotype #0000308997

Individual ID 00417517
Associated disease BBS
Phenotype details obesity; intellectual disability; renal symptoms: none; retinitis pigmentosa; no polydactyly; no deafness; no anosmia; no atopy; BBS facies; congenital heart disease: none; fatty liver: none; no 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

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