Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000232881 Individual ID 00307057 Associated disease NDD Diagnosis/Initial neurodegeneration Diagnosis/Definite - Phenotype details infantile form; delayed motor development; intellectual impairment; chronic progression; regression; no acute respiratory failure; no microcephaly; seizures; spastic paraplegia; visual disturbance Inheritance Familial, autosomal recessive Age/Examination 7d Age/Diagnosis - Age/Onset 22y 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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