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| Mitochondrial disease v0.455 | MRPS28 | Zornitza Stark Phenotypes for gene: MRPS28 were changed from Intrauterine growth retardation; developmental delay; dysmorphism to Intrauterine growth retardation; developmental delay; dysmorphism; Combined oxidative phosphorylation deficiency 47, MIM618958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.454 | MRPS28 | Zornitza Stark edited their review of gene: MRPS28: Changed phenotypes: Intrauterine growth retardation, developmental delay, dysmorphism, Combined oxidative phosphorylation deficiency 47, MIM618958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.347 | MRPS28 | Zornitza Stark Marked gene: MRPS28 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.347 | MRPS28 | Zornitza Stark Gene: mrps28 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.347 | MRPS28 |
Zornitza Stark gene: MRPS28 was added gene: MRPS28 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: MRPS28 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS28 were set to 30566640 Phenotypes for gene: MRPS28 were set to Intrauterine growth retardation; developmental delay; dysmorphism Review for gene: MRPS28 was set to RED Added comment: Single individual reported. Sources: Expert list |
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