Global Variome shared LOVD

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Phenotype #0000332720 Individual ID 00443378 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details severe global developmental delay/intellectual disability; no speech; sit independently; wheelchair-bound; limited upgaze; spasticity; spasticity in lower limbs; cerebellar ataxia; upper limb ataxia; Confined to wheelchair; tremor; head tremor; hand tremor (at rest, posture, movement); Parkinsonism; stooping of the body; lateral flexion body; coarse face; thin upper lip; MRI brain Agenesis of the corpus callosum Inheritance Familial, autosomal recessive Age/Examination 50y (50 years) 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 2023-11-25 19:15:23 +01:00 (CET) Date last edited N/A

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