Global Variome shared LOVD

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

Phenotype #0000331484 Individual ID 00442133 Associated disease MLC Phenotype details see paper; ..., birth OFC 35cm (50th%); OFC 54.5cm (>97%); 2y6m-seizure after head trauma; ataxia; no spasticity; intention tremor; no dysmetria; normal speech; no deterioration yet; not motor deterioration yet; mild developmental delay; 7m-onset macrocephaly; MRI brain swollen white matter, subcortical cyst Diagnosis/Initial megalencephalic leukoencephalopathy and subcortical cysts Inheritance Familial, autosomal recessive Diagnosis/Definite MLC1 Age/Examination 3y6m (3 years, 6 months) 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 2023-11-19 10:02:41 +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.