Global Variome shared LOVD

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Phenotype #0000254867 Individual ID 00359582 Associated disease BDB2 Phenotype details Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843), Aplasia/Hypoplasia of the nails (HP:0008386), distal symphalangism (HP:0100263), Aplasia/Hypoplasia of the distal phalanges of the toes (HP:0010185) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 03y06m (3 years, 6 months) Age/Diagnosis 06y Age/Onset - Phenotype/Onset - Protein - Owner name Yasmina Elaribi Database submission license No license selected Created by Yasmina Elaribi Date created 2021-03-29 14:25:27 +02:00 (CEST) Date last edited 2021-04-08 12:01:01 +02:00 (CEST)

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