Global Variome shared LOVD

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

Phenotype #0000304366 Individual ID 00412361 Associated disease NDD Diagnosis/Initial intellectual disability, epilepsy Diagnosis/Definite - Phenotype details mild developmental delay, myoclonic seizures, fever induced seizures, slightly delayed motor development, delayed speech, flat face, congenital nystagmus, strabismus, hypertelorism, long philtrum, bilateral retention testis, long second toe 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 2025-12-02 13:47:03 +01:00 (CET)

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