Global Variome shared LOVD

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Phenotype #0000292647 Individual ID 00399542 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details no macrocephaly; micro/retrognathia; dysmorphic features; no tongue hamartoma; congenital pelvicalyceal dilatation; no intellectual disability; motor impairment (fundamental motor skill); language impairment; behavioral problems; poor social interaction; no epilepsy Inheritance Familial, autosomal recessive Age/Examination 7y (7 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 2022-01-21 15:59:18 +01:00 (CET) Date last edited N/A

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