Global Variome shared LOVD

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Phenotype #0000232883 Individual ID 00307059 Associated disease NDD Diagnosis/Initial neurodegeneration Diagnosis/Definite - Phenotype details infantile form; delayed motor development; chronic progression; no regression; 6w-no acute respiratory failure; microcephaly (SD−4.2); seizures; spastic paraplegia; visual disturbance; MRI pattern I; lactate increase; reduced sensory nerve conduction velocity; normal muscle histology Inheritance Familial, autosomal recessive Age/Examination 42d Age/Diagnosis - Age/Onset 1y7m Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-28 19:38:55 +02:00 (CEST) Date last edited N/A

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