Global Variome shared LOVD

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

Phenotype #0000330522 Individual ID 00440610 Associated disease PVNH Diagnosis/Initial periventricular nodular heterotopia Diagnosis/Definite PVNH8 Phenotype details no microcephaly; no growth delay; motor delay; not walking; speech delay, 5-6y-first words; severe intellectual disability; normal behaviour; 3y-focal seizures with impaired awareness, absences; hypotonia, spasticity; stereotypies; MRI brain 2m-short dysplastic corpus callosum; Retrocerebellar cyst and possble small vermis; cerebral atrophy; looks microcephalic, low frontal hair line, full eyebrows, high palate, gingival hyperplasia; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; grey hairs, irritated skin on face (because of touching mouth and face continously, dissapears when hands are restricted); normal endocrine system; no sleep disturbance; Scoliosis Inheritance Isolated (sporadic) Age/Examination 7y (7 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

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.