Assertion: chromosome deletion | /r/HasProperty | known cause
Facets:
value: for the disorder
type: OTHER
Source sentences:
text: As a primary test in a Mendelian disorder due to haploinsufficiency when sequence analysis fails to identify a causative mutation; in particular when whole or partial gene deletions are a known cause for the disorder (i.e., STK11 deletion associated with Peutz-Jeghers syndrome or RAI1 deletion associated with Smith-Magenis syndrome).