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| Skeletal dysplasia v0.0 | ISCA-37441-Loss |
Zornitza Stark Region: ISCA-37441-Loss was added Region: ISCA-37441-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37441-Loss were set to 15852040; 20140962; 16319823 Phenotypes for Region: ISCA-37441-Loss were set to parietal foramina; mental retardation; intellectual disability; ophthalmologic anomalies; Potocki-Shaffer syndrome; myopia; biparietal foramina; enlarged anterior fontanel; minor craniofacial anomalies; genital abnormalities in males; developmental delay; multiple exostoses; strabismus; 601224 |
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