| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 8p11.23 | Encephalocraniocutaneous lipomatosis, somatic mosaic | 613001 | 3 | FGFR1 | 136350 |
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 8p11.23 | Encephalocraniocutaneous lipomatosis, somatic mosaic | 613001 | 3 | |
| Hartsfield syndrome | 615465 | AD | 3 | |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 147950 | AD | 3 | |
| Jackson-Weiss syndrome | 123150 | AD | 3 | |
| Osteoglophonic dysplasia | 166250 | AD | 3 | |
| Pfeiffer syndrome | 101600 | AD | 3 | |
| Trigonocephaly 1 | 190440 | AD | 3 |
|
|
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 12p12.1 | Arteriovenous malformation of the brain, somatic | 108010 | 3 | |
| Bladder cancer, somatic | 109800 | 3 | ||
| Breast cancer, somatic | 114480 | 3 | ||
| Cardiofaciocutaneous syndrome 2 | 615278 | AD | 3 | |
| Gastric cancer, somatic | 613659 | 3 | ||
| Leukemia, acute myeloid, somatic | 601626 | 3 | ||
| Lung cancer, somatic | 211980 | 3 | ||
| Noonan syndrome 3 | 609942 | AD | 3 | |
| Oculoectodermal syndrome, somatic | 600268 | 3 | ||
| Pancreatic carcinoma, somatic | 260350 | 3 | ||
| RAS-associated autoimmune leukoproliferative disorder | 614470 | AD | 3 | |
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | 163200 | 3 |
|
|
|
|
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