Phenotype #0000331360

Individual ID 00441977
Associated disease MLC
Phenotype details transient macrocephaly; delayed early motor development; 18m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC 75perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs
Diagnosis/Initial improving megalencephalic leukoencephalopathy with subcortical cysts phenotype
Inheritance Unknown
Diagnosis/Definite MLC2B
Age/Examination 3y (3 years)
Age/Diagnosis -
Age/Onset 8m
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.