Global Variome shared LOVD

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Phenotype #0000355647 Individual ID 00470751 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., global psychomotor developmental delay; hypotonia; 14m-walk; 4speech y-first words, sentences, slow expression; moderate intellectual disability; no autism spectrum disorder; behaviour quiet, slowness, anxiety; 11y-epilepsy; EEG abnormal background activity, spikes, spike-waves and polyspike-waves organized as cluster, eyelid and shoulder myoclonus. ; MRI subnormal (lateral ventricles enlargement and bilateral fronto-parietal cortical furrows); prominent nasal bridge, bulbus nose, fleshy ear lobes, thin lips, triangular eyebrows, long eyelashes, hypotonic face; spotty hypopigmented, dry skin, eczema; no skeletal abnormalities; no heart defect; small penis; dyspraxia Age/Examination 14y (14 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 2025-12-08 15:51:34 +01:00 (CET) Date last edited N/A

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