Global Variome shared LOVD

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Phenotype #0000241799 Individual ID 00318015 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details Severe ID, speech delay, ADHD, autism, epilepsy, spasticity in V:3, severe hypotonia in V:1 and V:2, can’t stand and walk, V:2 has open mouth, drooling, small incisors. Age/Examination - 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 2020-11-05 17:52:36 +01:00 (CET) Date last edited N/A

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