Global Variome shared LOVD

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

Phenotype #0000359555 Individual ID 00474762 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MPAPA Phenotype details see paper; ..., intellectual disability, motor delay, no postnatal growth retardation, megalencephaly; MRI brain ventriculomegaly, no hydrocephalus, no bilateral perisylvian polymicrogyria, hypoplastic corpus callosum; no cardiac defect; postaxial polydactyly, no toe syndactyly, no brachymesophalangy, no tracheal dysplasia; no gastrointestinal atresia; 3m-neuroblastome (1y7m-remission) Inheritance Isolated (sporadic) Age/Examination 00y08m (8 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-25 09:40:17 +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.