Global Variome shared LOVD

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Phenotype #0000337583 Individual ID 00448395 Associated disease ? Diagnosis/Initial severe multisystem syndrome Diagnosis/Definite LDMLS1 Phenotype details see paper; ..., see paper; ..., speech delay (HP:0000750), normal verbal understanding, delayed lexical production; intellectual disability (HP:0001249); no epilepsy (-HP:0001250); sinus sick syndrome; chronotropic response; paced escape beats; pacemaker implantated; no structural heart anomalies; hypotonia (HP:0001252); pathological gastric reflux; nystagmus (HP:0000639) Inheritance Familial, autosomal recessive Age/Examination 9y (9 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 N/A

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