Global Variome shared LOVD

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Phenotype #0000142004 Individual ID 00179513 Associated disease AMD1 Phenotype details see paper; ..., markedly short forearms, short and broad fingers and toes, limited extension elbows, normal motor milestones, severe pain in back for last few years; heterozygous carriers have short hands and feet Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite AMDM Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Height-Weight-OFC - Protein - Owner name Noor-ul-ain Ain Database submission license No license selected Created by Johan den Dunnen Date created 2018-08-24 09:38:21 +02:00 (CEST) Date last edited 2020-07-02 16:22:41 +02:00 (CEST)

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