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| Intellectual disability syndromic and non-syndromic v1.590 | Sarah Milton Copied Region ISCA-37494-Gain from panel Common deletion and duplication syndromes | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.590 | ISCA-37494-Gain |
Sarah Milton Region: ISCA-37494-Gain was added Region: ISCA-37494-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list Mode of inheritance for Region: ISCA-37494-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for Region: ISCA-37494-Gain were set to 25927380; 20301461; 32043567; 32112660 Phenotypes for Region: ISCA-37494-Gain were set to Chromosome Xq28 duplication syndrome MIM#300815; intellectual disability; hypotonia; seizures; spasticity; recurrent respiratory infections |
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