Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 17/06/2006 |
Symbol | ADEDAID |
Location | 14q13 |
Name | ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency |
Corresponding gene | NFKBIA |
Main clinical features |
|
Genetic determination | autosomal dominant |
Function/system disorder | dermatology |
defense and immunity | |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| abnormal protein/gain of function
|  
| |