Global Variome shared LOVD

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Phenotype #0000308042 Individual ID 00416275 Associated disease del 1p36 Diagnosis/Initial 1p36 deletion syndrome Diagnosis/Definite - Phenotype details severe intellectual disability, speech delay, ataxia, abnormal gait,; seizures; microcephaly; proportionate short stature, enlarged joints, joint stiffness/arthiritis/gout, hyperkeratosis, hyphydrotic or dry skin, erythema Inheritance Isolated (sporadic) Age/Examination 15y8m (15 years, 8 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-08-26 10:31:45 +02:00 (CEST) Date last edited N/A

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