Global Variome shared LOVD

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Phenotype #0000330537 Individual ID 00440625 Associated disease PVNH Diagnosis/Initial periventricular nodular heterotopia Diagnosis/Definite PVNH8 Phenotype details no microcephaly; no growth delay; motor delay; 26m-walk; speech delay; moderate intellectual disability; no seizures; mild hypotonia, ataxia; waddling gait; MRI brain periventricular nodular heterotopia; high forhead, hypertelorism, anteverted nares, narrow downslanted palpebral fissures; hearing loss; normal vision; interventricular communication; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance; polyneuropathy Inheritance Isolated (sporadic) Age/Examination 13y (13 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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