Global Variome shared LOVD

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Phenotype #0000337586 Individual ID 00448398 Associated disease ? Diagnosis/Initial milder multisystem syndrome Diagnosis/Definite LDMLS2 Phenotype details see paper; ..., speech delay (HP:0000750), delayed lexical production; mild intellectual disability (HP:0001249)(HP:0001256); no epilepsy (-HP:0001250); sinus sick syndrome; chronotropic response unremarkable; escape beats; pacemaker implantated; no structural heart anomalies; impaired fine motor skills; normal gastric reflux; no nystagmus (HP:0000639) Inheritance Familial, autosomal recessive Age/Examination 08y (8 years) 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 2024-03-07 18:34:17 +01:00 (CET) Date last edited 2024-03-07 18:39:07 +01:00 (CET)

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