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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