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| 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) |