Global Variome shared LOVD

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Phenotype #0000274255 Individual ID 00380405 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details global developmental delays; speech impaired; motor impaired; dysmorphic features; no behavioral deficits; GI/feeding abnormalities; ophthalmologic abnormalities; variable hypotonia muscle; no movement/neurological disorder; febrile to non-febrile seizures; no microcephaly; MRI brain abnormalities Inheritance Isolated (sporadic) Age/Examination 5y (5 years) Age/Diagnosis - Age/Onset 9m 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 2021-08-16 13:20:55 +02:00 (CEST) Date last edited N/A

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