Global Variome shared LOVD

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Phenotype #0000232882 Individual ID 00307058 Associated disease NDD Diagnosis/Initial neurodegeneration Diagnosis/Definite - Phenotype details infantile form; delayed motor development; mild intellectual impairment; chronic progression; no regression; 3w-no acute respiratory failure; microcephaly (SD−3.3); seizures; spastic paraplegia; visual disturbance; MRI pattern I; reduced sensory nerve conduction velocity unilateral Inheritance Familial, autosomal recessive Age/Examination 21d Age/Diagnosis - Age/Onset 5y 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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