UniProt ID | Protein Name | Source |
---|---|---|
Q9HC07 | Putative divalent cation/proton antiporter TMEM165 |
HPO ID | HPO Term |
---|---|
HP:0000272 | Malar flattening |
HP:0000007 | Autosomal recessive inheritance |
HP:0000358 | Posteriorly rotated ears |
HP:0001382 | Joint hypermobility |
HP:0002751 | Kyphoscoliosis |
HP:0001250 | Seizure |
HP:0005575 | Hemolytic-uremic syndrome |
HP:0001955 | Unexplained fevers |
HP:0000705 | Amelogenesis imperfecta |
HP:0004322 | Short stature |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: April 7, 2025