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Details of CCDC22 gene in Homo sapiens
Disease |
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| Disease |
OMIM id |
| Note=May be involved in X-linked syndromic mental retardation (PubMed:21826058). CCDC22 expression has been found to be down-regulated in a family with a phenotype consistent with X- linked syndromic mental retardation, and carrying variant Ala-17. In addition to intellectual disability, affected individuals have cardiac and skeletal abnormalities. |
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Orthologs in other species |
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| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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