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| Stickler Syndrome v0.3 | PLOD3 | Zornitza Stark Marked gene: PLOD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v0.3 | PLOD3 | Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v0.3 | PLOD3 | Zornitza Stark Classified gene: PLOD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v0.3 | PLOD3 | Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v0.2 | PLOD3 |
Lauren Akesson gene: PLOD3 was added gene: PLOD3 was added to Stickler Syndrome. Sources: Literature Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to 18834968; 30237576; 30463024; 31129566 Phenotypes for gene: PLOD3 were set to Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia Penetrance for gene: PLOD3 were set to unknown Review for gene: PLOD3 was set to GREEN Added comment: Complex phenotype that includes features of a Stickler-like syndrome. High myopia described in 3/5 described unrelated families One description of retinal detachment Facial dysmorphism with midface hypoplasia, microretrognathia Other features include developmental delay and sensorineural hearing loss Sources: Literature |
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