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| Regression v0.513 | BOLA3 |
Zornitza Stark gene: BOLA3 was added gene: BOLA3 was added to Regression. Sources: Literature Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BOLA3 were set to 24334290; 29654549; 21944046; 22562699; 26741492; 24334290 Phenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299) Review for gene: BOLA3 was set to GREEN Added comment: At least 5 unrelated families reported. Clinical course is characterised by regression. Sources: Literature |
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