Global Variome shared LOVD

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Phenotype #0000337593 Individual ID 00448405 Associated disease ? Diagnosis/Initial - Diagnosis/Definite LDMLS1 Phenotype details see paper; ..., 2m-delay noted; 3m-onset epileptic spasms, 18m-tonic-clonic seizure, 23m-epileptic spasms; EEG 1m-normal, 3m-burst suppression, 4m-normal; hypotonia; profound intellectual disability; nonverbal; nonambulatory; MRI brain 2y-mild cerebellar atrophy; junctional rhythm with 6.9 s pauses (3d-apnea); vertical nystagmus; no ERG; microcephaly Inheritance Familial, autosomal recessive Age/Examination 3y (3 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 19:45:58 +01:00 (CET) Date last edited N/A

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