Phenotype #0000234979

Individual ID 00309660
Associated disease ?
Diagnosis/Initial leukoencephalopathy
Diagnosis/Definite -
Phenotype details see paper; ..., leukoencephalopathy, spinal cord calcifications, deafness, hypochromic microcytic anemia
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2020-08-31 10:17:46 +02:00 (CEST)
Date last edited N/A

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