Global Variome shared LOVD

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Phenotype #0000337072 Individual ID 00447876 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDBAF Phenotype details see paper; ..., global developmental delay/intellectual disability; no hypotonia; no dysmorphic features; dysphagia; no failure to thrive; seizures; no musculoskeletal features; genitourinary abnormalities; normal cranial shape; respiratory problems; no behavioral disorders; no stereotyped movements; spasticity; no eye abnormalities; no endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, malformation cortical development, no polymicrogyria, dysgyria, no grey matter heterotopia, cerebellar dysplasia, brainstem abnormalities, no Chiari I anomaly Inheritance Isolated (sporadic) 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 2024-01-29 17:14:31 +01:00 (CET) Date last edited N/A

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