Phenotype #0000337604

Individual ID 00448416
Associated disease EIEE
Phenotype details see paper; ..., ; early infantile epileptic encephalopathy, severe neurologic developmental delay, nystagmus, retinal degeneration, cardiac conduction disorder (sinus arrhythmia, normal PR/QTc intervals and sinus bradycardia with frequent sinus pauses up to 3.3sec without structural abnormalities)
Diagnosis/Initial early infantile epileptic encephalopathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite LDMLS1
Age/Examination 2y (2 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Intellectual_dis -
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 21:18:41 +01:00 (CET)
Date last edited N/A

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