Global Variome shared LOVD

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Phenotype #0000278511 Individual ID 00384728 Associated disease - Phenotype details polydactyly of two limbs, congenital heart disease, genitourinary sinus anomalies and distal vaginal stenosis with secondary hydrocolpos and hydronephrosis at birth, digit anomaly, combined BBS/MKKS phenotype Diagnosis/Initial Bardet–Biedl Syndrome (BBS) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 4y1m (4 years, 1 month) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2021-10-05 15:28:49 +02:00 (CEST) Date last edited N/A

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