| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 9q34.2 | Geleophysic dysplasia 1 | 231050 | AR | 3 | ADAMTSL2 | 612277 |
| Location | Phenotype | Inheritance |
Phenotype mapping key |
Phenotype MIM number |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 9q34.2 | Geleophysic dysplasia 1 | AR | 3 | 231050 | ADAMTSL2 | 612277 |
| 11q13.1 | Geleophysic dysplasia 3 | AD | 3 | 617809 | LTBP3 | 602090 |
| 15q21.1 | Geleophysic dysplasia 2 | AD | 3 | 614185 | FBN1 | 134797 |
|
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 15q21.1 | Geleophysic dysplasia 2 | 614185 | AD | 3 | FBN1 | 134797 |
| Location | Phenotype | Inheritance |
Phenotype mapping key |
Phenotype MIM number |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 9q34.2 | Geleophysic dysplasia 1 | AR | 3 | 231050 | ADAMTSL2 | 612277 |
| 11q13.1 | Geleophysic dysplasia 3 | AD | 3 | 617809 | LTBP3 | 602090 |
| 15q21.1 | Geleophysic dysplasia 2 | AD | 3 | 614185 | FBN1 | 134797 |
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 9q34.2 | Geleophysic dysplasia 1 | 231050 | AR | 3 |
|
|
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 11q13.1 | Geleophysic dysplasia 3 | 617809 | AD | 3 | LTBP3 | 602090 |
| Location | Phenotype | Inheritance |
Phenotype mapping key |
Phenotype MIM number |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 9q34.2 | Geleophysic dysplasia 1 | AR | 3 | 231050 | ADAMTSL2 | 612277 |
| 11q13.1 | Geleophysic dysplasia 3 | AD | 3 | 617809 | LTBP3 | 602090 |
| 15q21.1 | Geleophysic dysplasia 2 | AD | 3 | 614185 | FBN1 | 134797 |
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 15q21.1 | Acromicric dysplasia | 102370 | AD | 3 |
| Ectopia lentis, familial | 129600 | AD | 3 | |
| Geleophysic dysplasia 2 | 614185 | AD | 3 | |
| Marfan lipodystrophy syndrome | 616914 | AD | 3 | |
| Marfan syndrome | 154700 | AD | 3 | |
| MASS syndrome | 604308 | AD | 3 | |
| Stiff skin syndrome | 184900 | AD | 3 | |
| Weill-Marchesani syndrome 2, dominant | 608328 | AD | 3 |
|
|
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 11q13.1 | Dental anomalies and short stature | 601216 | AR | 3 |
| Geleophysic dysplasia 3 | 617809 | AD | 3 |
|
|
|
|
|
|
|
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