Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 15-09-2012 |
Symbol | CDMM |
Location | 11q13 |
Name | congenital deafness with inner ear agenesis (Michel aplasia), microtia, and microdontia |
Other name(s) |
|
Corresponding gene | FGF3 |
Other symbol(s) | LAMM |
Main clinical features | profound congenital sensorineural deafness, type I microtia with shortening of auricles above the crura of the antihelix, and microdontia with widely spaced teeth and anteverted ears |
Genetic determination | autosomal recessive |
autosomal dominant | |
Function/system disorder | ear |
dermatology | |
Type | malformation |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| abnormal protein/loss of function
| substitutes an uncharged polar side chain amino acid, serine, with a nonpolar side chain residue, proline, at codon 156
| |
Remark(s) |