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Skeletal Dysplasia_Fetal v0.155 | EXTL3 | Zornitza Stark Marked gene: EXTL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.155 | EXTL3 | Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.155 | EXTL3 | Zornitza Stark Classified gene: EXTL3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.155 | EXTL3 | Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.154 | EXTL3 |
Krithika Murali gene: EXTL3 was added gene: EXTL3 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXTL3 were set to PMID: 28132690 Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities - MIM#617425 Review for gene: EXTL3 was set to GREEN Added comment: Disproportionate short stature with limb shortening and death in the neonatal period reported. Sources: Literature |