Global Variome shared LOVD

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Phenotype #0000257122 Individual ID 00361720 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite CDG2N Inheritance Familial, autosomal recessive Phenotype details birth length 5th–10th; birth weight 50th; OFC 50th; length -3 to -4 SD; weight -4 SD; OFC 50th; 4y-head control; sit with support; not walking; profound intellectual disability; profound hypotonia; strabismus; no seizures; recurrent infections, joint hypermobility; osteopenia, flat and broad long bone epiphyses; MRI severe atrophy of the cerebellar vermis and hemispheres Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-08 11:48:33 +02:00 (CEST) Date last edited N/A

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