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GENATLAS PHENOTYPE |
last update : 13-11-2013 |
Symbol | CDLSX |
Location | Xp11.22 |
Name | Cornelia de Lange syndrome, X-linked |
Corresponding gene | SMC1A |
Main clinical features |
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Genetic determination | sex linked |
Prevalence | 5p100 of all Cornelia De Lange syndromes, mutation of SMC1L1 and SMC3 in 5p100 of cases |
Function/system disorder | mental retardation |
osteo-articular | |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
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| in the head domain positioned near the Walker A, B, and signature/C motifs that could affect ATP binding, ATP hydrolysis, and/or SMC1/SMC3 head-domain dimerization, an ATP-dependent process
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Remark(s) |
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