Inflammatory skin and bowel disease, neonatal, 2
| Disorder | |
|---|---|
| OMIM #: | #616069 (Click to access OMIM database) |
| Disorder: | Inflammatory skin and bowel disease, neonatal, 2 |
| Also known as: | |
| Clinical | |
| Phenotype: | vomiting, diarrhea, dehydration, skin erosion, papules, pustules, acanthosis nigricans, failure to thrive, respiratory infections, coarctation, trichomegaly |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | EGFR |
| Base Change: | c.560-2_565delAGGCCAAA |
| Amino Acid Change: | |
| Last updated: | 2022-11-05 |
| References |
|---|
| Personal communication; seen at CSC. |
Back