Global Variome shared LOVD

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Phenotype #0000304363 Individual ID 00412358 Associated disease NDD Diagnosis/Initial intellectual disability, epilepsy Diagnosis/Definite - Phenotype details severe intellectual disability, epilepsy, hypotonia, psychomotor delay, absent speech, unilateral dysplasia of external ear, unilateral external auditory canal atresia, unilateral deafness, high forehead, strabismus, flat nose, small feet 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 2022-06-27 21:35:38 +02:00 (CEST) Date last edited N/A

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