Global Variome shared LOVD

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Phenotype #0000233137 Individual ID 00307402 Associated disease KDVS Phenotype details caesarian section; hypotonia; hypoxia; bradycardia; epilepsy; developmental delay; patent ductus arteriousus; scapula alata; pes planus; protruding ears; thin upper lip; upslanted palpebral fissures ; low hanging columella nasi; hypoplastic alae nasi and a wide mouth; cerebellar hypoplasia; friendly nature; cryptorchidism Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Alexander Dingemans Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Alexander Dingemans Date created 2020-08-12 16:25:38 +02:00 (CEST) Date last edited 2020-08-18 09:01:11 +02:00 (CEST)

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