Phenotype #0000337584

Individual ID 00448396
Associated disease ?
Diagnosis/Initial severe multisystem syndrome
Diagnosis/Definite LDMLS1
Phenotype details see paper; ..., birth weight 2,845 g (15th); speech delay (HP:0000750), nonverbal (HP:0001344); intellectual disability (HP:0001249); epilepsy (HP:0001250); increased PR interval (intermittent Weckenbach); no pacemaker; no structural heart anomalies; hypotonia (HP:0001252); pathological gastric reflux; nystagmus (HP:0000639)
Inheritance Familial, autosomal recessive
Age/Examination 12y (12 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 N/A

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