Phenotype #0000304667

Individual ID 00412675
Associated disease BBS
Phenotype details uncorrected visual acuity: 6/21, 6/21; retinitis pigmentosa - nyctalopia 25y; bone spicules in mid-periphery, granular appearance in the posterior pole; intellectual disability: severe; short stature: yes, 132 cm; weight (kg): 57.8; obesity - calculated BMI kg/m2: 33.2; genu valgum: unknown; varum
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Bardet-Biedl syndrome
Age/Examination 29y (29 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

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