Phenotype #0000337585

Individual ID 00448397
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; no pacemaker; no structural heart anomalies; no hypotonia (-HP:0001252); normal gastric reflux
Inheritance Familial, autosomal recessive
Age/Examination 13y (13 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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-03-07 18:34:17 +01:00 (CET)
Date last edited 2024-03-07 18:39:24 +01:00 (CET)

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