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| References | OMIM | Gene | GeneReviews | HGMD | HGNC |
| GENATLAS PHENOTYPE |
| last update : 04/10/06 |
| Symbol | DEL7P21 |
| Location | 7p21.1 |
| Name | chromosome 7p distal deletion, including TWIST1 |
| Other name(s) | craniosynostosis, syndromic 4 |
| Corresponding gene | TWIST1 , TWISTNB |
| Other symbol(s) | CRS4 |
| Main clinical features | Saethre-Chotzen syndrome with learning disabilities |
| Genetic determination | chromosomal |
| Related entries | ACS3 |
| Function/system disorder | multisystem/generalized |
| osteo-articular | |
| Type | MCA/MR |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
| deletion
|
| microdeletion ranging in size between 3.5 and >11.6 Mb with no common sequences flanking the breakpoints
| |
| Remark(s) |
| Genotype/Phenotype correlations | severe mental retardation and significant short stature are present in patients with larger deletions PMID: 21333765,, PMID: 22570644 |