Disease #00655 (BOR-1 (branchiootorenal syndrome, with/without cataract, type 1 (BOR-1)), OMIM:113650)

Official abbreviation BOR-1
Name branchiootorenal syndrome, with/without cataract, type 1 (BOR-1)
OMIM ID 113650
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 2 genes EYA1, SIX1
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Individuals

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00164339 - - - F no Argentina - - 0 - - BOR-1 Hearing loss, fistulae, cleft palate, renal agenesis/hypoplasia EYA1 EYA1 1 5 Viviana Karina Dalamón
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