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| Aortopathy_Connective Tissue Disorders v0.139 | P4HA1 | Zornitza Stark Marked gene: P4HA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.139 | P4HA1 | Zornitza Stark Gene: p4ha1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.139 | P4HA1 |
Zornitza Stark gene: P4HA1 was added gene: P4HA1 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: P4HA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: P4HA1 were set to 28419360 Phenotypes for gene: P4HA1 were set to Joint hypermobility; Contractures; Hypotonia; Mild skeletal dysplasia without bone fragility; High myopia Review for gene: P4HA1 was set to RED Added comment: Single family reported with two affected individuals. Sources: Expert list |
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