Global Variome shared LOVD

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

Phenotype #0000347517 Individual ID 00459443 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., microcephaly, developmental delay; primary microcephaly; moderate intellectual disability; delayed speech; delayed motor development, 14m-walk; progressive spasticity predominantly lower extremities; intention tremor, dysarthria, ataxic gait; 18m-complex focal seizures, repetitive status epilepticus; normal vision; no hearing impairment; bilateral mild 5th finger clinodactyly; slight 2-3 syndactyly toes; 7y-neuroimaging mild cerebral atrophy (detailed in paper) Inheritance Familial, autosomal recessive Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset 0d 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 2025-01-04 12:10:18 +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.