Global Variome shared LOVD

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

Phenotype #0000331353 Individual ID 00441970 Associated disease MLC Phenotype details macrocephaly, delay; delayed early motor development; 17m-walk; delayed language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; mild hypotonia arms; no motor signsarms; mild hypotonia legs; no motor signs legs Diagnosis/Initial improving megalencephalic leukoencephalopathy with subcortical cysts phenotype Inheritance Unknown Diagnosis/Definite MLC2B Age/Examination 5y6m (5 years, 6 months) Age/Diagnosis - Age/Onset 4m Phenotype/Onset - Protein - Owner name Rogier Min Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-10-31 16:41:00 +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.