Global Variome shared LOVD

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Phenotype #0000257299 Individual ID 00361903 Associated disease WS1 Phenotype details Heterochromia iris, telecanthus, white forelock, bilateral profound to severe hearing loss and hypopigmented patches of skin on the forehead, chest and upper limbs. Father (II-2) and paternal grandmother (I-2) had heterochromis irides. Mother (II-3) had white forelock Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Anju Shukla Database submission license No license selected Created by Anju Shukla Date created 2021-04-12 06:44:55 +02:00 (CEST) Date last edited 2021-04-12 14:21:13 +02:00 (CEST)

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