Global Variome shared LOVD

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Phenotype #0000355635 Individual ID 00470739 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., global psychomotor developmental delay; failure to thrive; no hypotonia; 12m-sit; not walking, standing with support; speech 8m-first words, sngle words; mild-moderate intellectual disability; no autism spectrum disorder; behaviour normal; 3m-epilepsy (convulsive status epilepticus); EEG frequent pleomorphic slow waves (left hemisphere awaken), during sleep frontal spikes and right central area spikes and slow waves; MRI normal; no facial dysmorphism; no anomalies digits; no heart defect Age/Examination 13m 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 2025-12-08 15:51:34 +01:00 (CET) Date last edited N/A

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