Phenotype #0000331336

Individual ID 00441953
Associated disease MLC
Phenotype details macrocephaly; normal early motor development; 18m-walk; normal language development; 2y-detoriation; ataxia, spasticity,; late cognitive; decline; 7y-wheelchair-bound; 11y-seizures; intellectual disability (IQ50); OFC >98perc.; dysarthria; dysphagia; spasticity arms; cerebellar ataxia arms; spasticity legs
Diagnosis/Initial classical megalencephalic leukoencephalopathy with subcortical cysts
Inheritance Familial, autosomal recessive
Diagnosis/Definite MLC2A
Age/Examination 38y (38 years)
Age/Diagnosis -
Age/Onset 1y
Phenotype/Onset -
Protein -
Owner name Rogier Min
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.