Phenotype #0000331362

Individual ID 00441979
Associated disease MLC
Phenotype details macrocephaly; delayed early motor development; 22m-walk; delayed language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; 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 2y9m (2 years, 9 months)
Age/Diagnosis -
Age/Onset 7m
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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