Global Variome shared LOVD

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Phenotype #0000330536 Individual ID 00440624 Associated disease PVNH Diagnosis/Initial periventricular nodular heterotopia Diagnosis/Definite PVNH8 Phenotype details microcephaly; growth delay; motor delay; 40m-walk assisted; speech delay, 2y-first words; severe intellectual disability; normal behaviour; no seizures; hypotonia, ataxia; MRI brain periventricular nodular heterotopia; microcephalic; morphology normal; no hearing loss; severe strabismus; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; short endocrine system; no sleep disturbance Inheritance Isolated (sporadic) Age/Examination 3y10m (3 years, 10 months) 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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