Received: 14 March 2022
Accepted: 29 July 2022
First Online: 5 August 2022
: All genetic testing in this study were performed after consent from the parents of the proband in accordance with the tenets of the Declaration of Helsinki.
: Written consent has been obtained from the parents/legal guardians for publication of clinical details, biological and molecular data.
: The authors declare that they have no competing interests.