Global Variome shared LOVD

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Phenotype #0000223059 Individual ID 00295493 Associated disease BDA1 Phenotype details The proband (Ⅳ-2) was a 30-year-old female, who presented with mild disproportionate short stature with a Height Standard Deviation Score (HSDS) of -2.4SD. The radiograph of her hands showed varying degrees of shortening of the middle phalanx of the second to fifth fingers, and the middle phalanges in digit five was fused to the terminal phalanx as only one interdigital joint was visible. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Yangqi Database submission license No license selected Created by Yangqi Date created 2020-03-12 04:34:04 +01:00 (CET) Date last edited 2020-04-03 12:17:45 +02:00 (CEST)

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