Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000330526 Individual ID 00440614 Associated disease PVNH Diagnosis/Initial periventricular nodular heterotopia Diagnosis/Definite PVNH8 Phenotype details microcephaly; 2y-walk; speech delay, 1y-first words; moderate intellectual disability; no seizures; mild hypotonia; MRI brain 13m2y-normal; looks microcephalic, no other characteristics noted; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; gastroesophageal reflux disease, recurrent infections, eosinophilic esophagitis, uses G-tube for feeds in addition to feeds by mouth Inheritance Isolated (sporadic) Age/Examination - 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.