Phenotype #0000027549

Individual ID 00034153
Associated disease MLD
Phenotype details late infantile, MRI brain pathological, gross motor impairment as first symptom
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Onset 01y08m
Age/Diagnosis -
Phenotype/Onset -
Protein 9 nmol/mg/h (normal= 93-145)
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-03-13 17:42:21 +01:00 (CET)
Date last edited 2019-07-27 12:32:50 +02:00 (CEST)

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