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| Skeletal dysplasia v2.211 | SLC35B2 | Sarah Leigh Entity copied from Intellectual disability v3.1672 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.211 | SLC35B2 |
Sarah Leigh gene: SLC35B2 was added gene: SLC35B2 was added to Skeletal dysplasia. Sources: Literature,Expert Review Amber Mode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35B2 were set to 35325049 Phenotypes for gene: SLC35B2 were set to Abnormality of the skeletal system; Short long bone; Short stature; Abnormality of epiphysis morphology; Scoliosis; Multiple joint dislocation; Global develpmental delay; Intellectual disability; CNS hypomyelination; Abnormality of the corpus callosum; Cerebral atrophy; Abnormality of the amniotic fluid Penetrance for gene: SLC35B2 were set to Complete |
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