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| Skeletal dysplasia v0.245 | PHF6 | Ain Roesley Marked gene: PHF6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.245 | PHF6 | Ain Roesley Gene: phf6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.245 | PHF6 | Ain Roesley Phenotypes for gene: PHF6 were changed from Coffin-Siris syndrome to Borjeson-Forssman-Lehmann syndrome, MIM# 301900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.245 | PHF6 | Ain Roesley Publications for gene: PHF6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.244 | PHF6 | Ain Roesley Mode of inheritance for gene: PHF6 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.244 | PHF6 | Ain Roesley Classified gene: PHF6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.244 | PHF6 | Ain Roesley Gene: phf6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.241 | PHF6 |
Zornitza Stark changed review comment from: Clinical features are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual development, large fleshy ears, underdeveloped genitalia, gynecomastia, truncal obesity, tapering fingers, and shortening of the fourth and fifth toes. Heterozygous females may have a milder similar clinical phenotype, which can include hypothyroidism; however, many carrier females appear unaffected. More than 20 families reported.; to: Clinical features are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual development, large fleshy ears, underdeveloped genitalia, gynecomastia, truncal obesity, tapering fingers, and shortening of the fourth and fifth toes. Heterozygous females may have a milder similar clinical phenotype, which can include hypothyroidism; however, many carrier females appear unaffected. More than 20 families reported. Abnormal skeletal features including thickened calvarium and abnormal vertebrae reported. |
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| Skeletal dysplasia v0.0 | PHF6 |
Zornitza Stark gene: PHF6 was added gene: PHF6 was added to Skeletal dysplasia. Sources: Mode of inheritance for gene: PHF6 was set to Phenotypes for gene: PHF6 were set to Coffin-Siris syndrome |
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