Global Variome shared LOVD

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Phenotype #0000330531 Individual ID 00440619 Associated disease PVNH Diagnosis/Initial periventricular nodular heterotopia Diagnosis/Definite PVNH8 Phenotype details no microcephaly; no growth delay; motor delay; 27m-walk; speech delay, 2y-first words; no seizures; EEG rare bifrontal epileptiform discharges during sleep; no hypotonia, no spasticity, no ataxia; MRI brain normal; mild bilateral ptosis, widely spaced eyes, upslanted palpebral fissures, broad mouth with everted lower lip and full lips, pointed chin, retrognathia, tapered fingers; L sensorineural hearing loss (aided); myopia, prescribed glasses; no cardiac anomalies; rnormal espiratory system; elevated LFTs, 1y-liver biopsy negative cholestasis, sparse patchy lobular necroinflammatory, no sign portal inflamm, no hemochromatosis, negative staining for glycogen storage disease, normal mitochondrial; normal urogenital system; recurrent pernio-like rashes that wax and wane (erythematous papules, macules); normal endocrine system; sleep disturbance, awakenings; WGS negative for Aicardi-Goutierres genes Inheritance Unknown Age/Examination 2y (2 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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