Global Variome shared LOVD

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Phenotype #0000358325 Individual ID 00473530 Associated disease DWS Phenotype details Developmental delay, severe; Speech delay; Mental retardation, moderate to severe; Seizures; Microcephaly; Hypotonia; Agitation; Micrognathia; Strabismus; Optic atrophy, bilateral; Early eruption of teeth; Large ears; Joints laxity; Flexed elbow; Extended feet; Feeding problem and very thin built. Brain MRI revealed hypoplasia of inferior vermis suggestive of dandy walker spectrum Diagnosis/Initial Dandy-Walker malformation, brain abnormalities Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 5y (5 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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