Global Variome shared LOVD

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

Phenotype #0000350765 Individual ID 00465230 Associated disease NDD Diagnosis/Initial Leigh’s disease Diagnosis/Definite NEDRSO Phenotype details birth emergency Caesarean section, weight 3,345 g (60th centile), length 49.5 cm (58th centile); abnormal body weight (<1st centile); short stature (<1st centile); no microcephaly; developmental/motor regression (onset 15m); spasticity (progressive, ascending); spastic quadriparesis; dystonia; drooling, non-verbal; non-ambulatory; increased deep tendon reflexes; MRI brain severe atrophy of cerebellum, striatum Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - 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 2025-04-24 13:56:53 +02:00 (CEST) Date last edited N/A

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