Global Variome shared LOVD

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Phenotype #0000308021 Individual ID 00416254 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details diminished length growth (−5.5 SD) from birth, stationary stiff joints; general severe delayed development; facial dysmorphic features, blepharophimosis, small mouth, poor mimicry; brachydactyly, generalized stiffness, contractures Inheritance Unknown Age/Examination 00y03m (3 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-08-25 22:12:05 +02:00 (CEST) Date last edited N/A

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