Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 12/03/08 |
Symbol | MPTLT3 | |
Location | 2q24-q32 | |
Name | multiple pterygium syndrome, lethal type 3 | |
Corresponding gene | CHRNA1 | |
Main clinical features |
| |
Genetic determination | autosomal recessive | |
Function/system disorder
Type
| disease
| |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| nonsense
|  
| abnormal protein/loss of function
| homozygous nonsense mutations
| |