Global Variome shared LOVD

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

Phenotype #0000331361 Individual ID 00441978 Associated disease MLC Phenotype details macrocephaly; normal early motor development; 14m-walk; delayed language development; no epilepsy; autism; no deterioration; intellectual disability (IQ70); 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 2y (2 years) Age/Diagnosis - Age/Onset 3m 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.