Global Variome shared LOVD

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Phenotype #0000330529 Individual ID 00440617 Associated disease PVNH Diagnosis/Initial periventricular nodular heterotopia Diagnosis/Definite PVNH8 Phenotype details microcephaly; no growth delay; motor delay; speech delay, noo speech yet; irritability; no seizures; EEG normal; Spasticity; myoclonus; MRI brain normal; bilateral cortical dysplasia; morphology normal; bilateral profound sensorineural hearing loss; cortical vision impairment; history of patent foramen ovale, stenosis of left pulmonary artery; stenosis of left pulmonary artery; G-tube dependent; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; sleep disturbance Inheritance Isolated (sporadic) Age/Examination 16m 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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