Global Variome shared LOVD

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

Phenotype #0000229855 Individual ID 00302773 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details severe intellectual disability; no speech; not walking; intractable eplilepsy; no autistic features; primary microcephaly; no macrocephaly; MRI brain normal; spastic, choreoathetosis, dysmetria, hyperreflexic; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities; scolosis Age/Examination 21y (21 years) 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 2020-06-01 10:33:11 +02:00 (CEST) Date last edited N/A

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