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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 10-10-2017 |
Symbol | MRXS32 |
Location | Xq28 |
Name | mental retardation, syndromic 32 |
Corresponding gene | CLIC2 |
Main clinical features | profound mental retardation, delayed psychomotor development beginning in infancy and little or no speech development, associated to seizures, large joint contractures, and abnormal positioning of the thumbs |
Genetic determination | sex linked |
Function/system disorder | mental retardation |
Type | MCA/MR |
Remark(s) |