Global Variome shared LOVD

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Phenotype #0000330533 Individual ID 00440621 Associated disease PVNH Diagnosis/Initial periventricular nodular heterotopia Diagnosis/Definite PVNH8 Phenotype details microcephaly; no growth delay; motor delay; 23m-walk; speech delay, no speech; intellectual disability; attention deficit hyperactivity disorder, autism, mild agression when at home; 2m-infantile spasms; EEG 4m-modified hypsarhythmia, 3y-normal; hypotonia; stereotopies; MRI brain 4m-thin corpus callosum; morphology normal; no hearing loss; hyperopia; no cardiac anomalies; rnormal espiratory system; intolerance to dairy and carbohydrates; retractile testes but otherwise Normal; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance Inheritance Isolated (sporadic) Age/Examination 8y (8 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 2023-11-05 11:38:45 +01:00 (CET) Date last edited N/A

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