Global Variome shared LOVD

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

Phenotype #0000308358 Individual ID 00416848 Associated disease PMGYS Phenotype details brain magnetic resonance imaging: mild frontal lissencephaly, posterior frontal pachygyria and parieto-occipital subcortical band heterotopia; additional clinical featuresshort stature, tetralogy of fallot, embryotoxon posterior, moderate intellectual disability (sister of patient 8) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Polymicrogyria with seizures [MIM 614833] Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-08 10:25:47 +02:00 (CEST) Date last edited N/A

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