UniProt ID | Protein Name | Source |
---|---|---|
P68133 | Actin, alpha skeletal muscle |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000218 | High palate |
HP:0100309 | Subdural hemorrhage |
HP:0000276 | Long face |
HP:0012084 | Abnormality of skeletal muscle fiber size |
HP:0000275 | Narrow face |
HP:0100297 | Increased endomysial connective tissue |
HP:0001270 | Motor delay |
HP:0009473 | Joint contracture of the hand |
HP:0001252 | Hypotonia |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: April 7, 2025