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| Intellectual disability syndromic and non-syndromic v1.644 | Sarah Milton Copied Region ISCA-46304-Gain from panel Common deletion and duplication syndromes | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.644 | ISCA-46304-Gain |
Sarah Milton Region: ISCA-46304-Gain was added Region: ISCA-46304-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen Mode of inheritance for Region: ISCA-46304-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for Region: ISCA-46304-Gain were set to PMID: 29141583, 22679399 Phenotypes for Region: ISCA-46304-Gain were set to Syndromic X-linked intellectual disability Lubs type, MONDO:0010283 |
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