Phenotype #0000295607

Individual ID 00402846
Associated disease MTDPS4B
Phenotype details Multiple autoimmune diagnoses (psoriasis, eosinophilic colitis, inflammatory arthritis)
Diagnosis/Initial lactate deposits on brain MRI; abnormal muscle biopsy
Inheritance Unknown
Diagnosis/Definite DNA Polymerase Gamma1 genetic testing (174763)
Age/Examination -
Age/Diagnosis 10y
Age/Onset 03y
Phenotype/Onset -
Protein -
Owner name Jessica L. Schnell
Database submission license No license selected
Created by Jessica L. Schnell
Date created 2022-02-11 18:39:31 +01:00 (CET)
Date last edited 2022-02-16 11:01:35 +01:00 (CET)

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