Phenotype #0000337594

Individual ID 00448406
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite LDMLS1
Phenotype details see paper; ..., 13y-deceased; 1d-delay noted; 4m-onset clonic seizure, 6m-epileptic spasms, 11m-generalized tonic-clonic seizure, 3y-epileptic spasms; EEG 42d-multifocal epileptiform discharges, ...; hypotonia; profound intellectual disability; nonverbal; nonambulatory; MRI brain normal; ECG normal; nystagmus; no ERG
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 19:45:58 +01:00 (CET)
Date last edited N/A

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