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GENATLAS PHENOTYPE |
last update : 20-05-2015 |
Symbol | MPTLT1 |
Location | 2q36-q37 |
Name | multiple pterygium syndrome, lethal type 1 |
Corresponding gene | CHRNG |
Other symbol(s) | MPTLT |
Genetic determination | autosomal recessive |
Related entries | MPTSE |
Function/system disorder | neuromuscular |
Type | disease |
Remark(s) |
Genotype/Phenotype correlations | allelic disorder: multiple pterygium syndrome, non lethal type |