Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000292314 Individual ID 00231356 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite NEDLIB Inheritance Isolated (sporadic) Phenotype details OFC 10th; developmental delay; intellectual disability; no seizures; autism spectrum disorder; stereotyped hand movements; delayed speech; brain MRI normal; joint hyper-extensibility Age/Examination 09y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution 4.0 International Created by Johan den Dunnen Date created 2022-01-17 14:24:06 +01:00 (CET) Date last edited N/A

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