Phenotype #0000319235

Individual ID 00428327
Associated disease BOR
Diagnosis/Initial branchiootorenal syndrome
Diagnosis/Definite BOR1
Phenotype details see paper; ..., post lingual hearing impairment (HP:0008596) 5/9; conductive hearing impairment (HP:0000405) 1/9, branchial fistula (HP:0009795) 7/9, preauricular sinus (HP:0004467) 7/9, preauricular skin tag (HP:0000384) 1/9, normal renal function (-HP:0012211)
Inheritance Familial, autosomal dominant
Age/Examination -
Age/Diagnosis 08y
Age/Onset -
Phenotype/Onset -
Owner name Yacouba Dia
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Yacouba Dia
Date created 2023-01-01 03:07:19 +01:00 (CET)
Date last edited 2023-01-05 10:58:42 +01:00 (CET)

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