Global Variome shared LOVD

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Phenotype #0000318902 Individual ID 00319854 Associated disease SHORT Phenotype details see paper; ..., short stature, ocular depression, Rieger anomaly, teething delay; facial hirsutism, blue sclera, small upslanting palpebral fissures, hypoplastic alae nasi, full cheeks, thin upper lips, large dysplastic ears, micrognathia Diagnosis/Initial SHORT syndrome Inheritance Isolated (sporadic) Diagnosis/Definite SHORT Age/Examination 23y (23 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution 4.0 International Created by Johan den Dunnen Date created 2022-12-17 11:45:02 +01:00 (CET) Date last edited N/A

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