Global Variome shared LOVD

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Phenotype #0000223753 Individual ID 00296278 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., deceased;; axial hypotonia; limb hypertonia; refractory infantile spasms, 12m-myoclonic and clonic seizures; mild developmental delay in first year of life, then regression; MRI brain cerebral atrophy and delayed myelination (12m); Inheritance Familial, autosomal recessive Age/Examination 2y2m (2 years, 2 months) Age/Diagnosis - Age/Onset 1d 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 2020-04-04 18:08:55 +02:00 (CEST) Date last edited N/A

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