Global Variome shared LOVD

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Phenotype #0000330539 Individual ID 00440627 Associated disease PVNH Diagnosis/Initial periventricular nodular heterotopia Diagnosis/Definite PVNH8 Phenotype details no microcephaly; no growth delay; motor delay; 24m-walk; speech delay, 18m-first words; mild intellectual disability; attention deficit hyperactivity disorder, autism, irritability and aggression, impulsive behaviors; 6m-febrile seizure, 7y-nonfebrile seizure; EEG presence of intermittent generalized slowing; no hypotonia, no spasticity, no ataxia; No; MRI brain 8y-normal; significant cerebellar volume loss; 1.9mm pineal region cysts; dental malocclusion, high arched palate, pes planus; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance; Tonsilectomy due to frequest choking episodes. 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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