Phenotype #0000346469

Individual ID 00458019
Associated disease ?
Diagnosis/Initial mitochondriopathy
Diagnosis/Definite MMDS9B
Phenotype details see paper; ..., no microcephaly; optic atrophy; MRI brain normal; no seizures; EEG normal; global development delay; regression; hypotonia; spasticity
Inheritance Familial, autosomal recessive
Age/Examination 0.3y
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 2024-11-25 14:01:53 +01:00 (CET)
Date last edited N/A

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