Global Variome shared LOVD

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Phenotype #0000350772 Individual ID 00465237 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDRSO Phenotype details see paper; ..., birth spontaneous vaginal delivery, weight 2,640 g (1st centile), length 47 cm (2nd centile); normal weight; short stature (<1st centile); 6.5y-microcephaly (OFC -5.5 SD, <1st centile); spasticity; no spastic quadriparesis; no dystonia; no oromotor dysfunction; gait abnormalities; increased deep tendon reflexes; MRI brain severe cerebellar atrophy 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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