Phenotype #0000315282

Individual ID 00424075
Associated disease BBS
Phenotype details current body mass index: 26.4; kidney: normal; retinal findings: retinitis pigmentosa and cone-rod dystrophy; stature: medium stature; cognitive impairment: absent; hearing: normal; smell: normal; digits: normal; transaminases: within normal limits; high blood pressure: no; dental anomalies: no; cardiac assessment: normal; pulmonary assessment: normal; diabetes mellitus: absent; seizures: absent; psychiatric assessment: normal
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Bardet-Biedl syndrome
Age/Examination 22y (22 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 2022-11-16 19:00:01 +01:00 (CET)
Date last edited N/A

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