Condition: Prader-Willi-like syndrome
rs398122416
in
MAGEL2
gene and
Prader-Willi-like syndrome
PMID 24076603
2013 Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
PMID 26633545
2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.