Assertion: syndrome's feature | /r/AtLocation | people
Facets:
value: with mutations in top3a and rmi1
type: OTHER
value: with fryns syndrome
type: OTHER
Source sentences:
text: Several additional features have been reported in people with Fryns syndrome.
text: The features of BSLD include small size and dermatologic findings, such as cafe-au-lait spots, and the presence of the once pathognomic elevated SCEs is reported for persons with mutations in TOP3A and RMI1.