Global Variome shared LOVD

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Phenotype #0000346473 Individual ID 00458023 Associated disease NDD Diagnosis/Initial global developmental delay Diagnosis/Definite MMDS9B Phenotype details see paper; ..., 29w-birth emergency cesarean section (maternal pre-eclampsia)2m in neonatal intensive care unit; global developmental delay (speech, fine motor, gross motor skills); 2y-sudden onset of ataxia, MRI brain normal; speech delay, axial hypotonia, ataxic gait, nystagmus, poor vision; 3y10m-no regression, no seizures, ambulatory with orthotics, speech 3-4 word phrases Inheritance Familial, autosomal recessive Age/Examination 03y10m (3 years, 10 months) 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 2024-11-25 17:46:47 +01:00 (CET) Date last edited N/A

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