Global Variome shared LOVD

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Phenotype #0000309242 Individual ID 00417875 Associated disease BBS Phenotype details weight, kg/height, m: 70/1.36; pressure, mmHg: 140/104; major bbs phenotypes: retinitis pigmentosa: yes; obesity (bmi, kg/m2): yes (38); renal anomalies: right renal cyst; polydactyly: yes; learning/comprehension: delay; hypogonadism: no; minor features: speech development: delay; motor skill: normal; strabismus: yes; dental architechure: tooth crowded; behavior: normal; development delay: mild; brachydactyly: yes; short neck, low nose bridge: yes; diabetes mellitus: no; heart problems: no; hearing loss: no; menstruation in female: irregular; nystagmus: no; cataract: no; micropenis: not applicable Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome (BBS) Age/Examination 39y (39 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-27 14:36:44 +02:00 (CEST) Date last edited N/A

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