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Intellectual disability syndromic and non-syndromic v1.141 SMAD6 Boris Keren changed review comment from: 7/28 patients had intellectual disability in Calpena et al. (PMID: 32499606).
Sources: Literature; to: 7/28 patients had intellectual disability in Calpena et al. (PMID: 32499606) and 11/15 had neurodevelopmental delay in Timberlake et al. (PMID: 27606499)
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.141 SMAD6 Boris Keren gene: SMAD6 was added
gene: SMAD6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD6 were set to PMID: 32499606
Penetrance for gene: SMAD6 were set to Incomplete
Review for gene: SMAD6 was set to GREEN
Added comment: 7/28 patients had intellectual disability in Calpena et al. (PMID: 32499606).
Sources: Literature