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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-10-31 16:41:00 +01:00 (CET)
Date last edited N/A

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