Received: 8 July 2020
Accepted: 22 December 2021
First Online: 25 January 2022
: The Ethical Committee from the Centro Universitário Estácio De Ribeirão Preto approved the study under the #170623317700005581 protocol.
: Written informed consent was obtained from the patient’s legal guardian for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
: RG has received consulting honoraria from Amicus, BioMarin, Chiesi, Denali, Inventiva, Janssen, JCR, PTC, RegenxBio, Sanofi, Sigilon, Sobi, Takeda, and Ultragenyx; investigator grant from Allevex, Lysogene, JCR, Idorsia, RegenxBio, Sanofi, Takeda, and Ultragenyx, and travel grants from Amicus, Chiesi, Janssen, JCR, Sanofi, Takeda, and Ultragenyx. CP and CC are employees of Centogene AG, Germany. IA, RR, ZAC, DG, LV, and CML declare no conflict of interest. All fees received by CML are donated to the CML Medical Foundation for Research and Genetic Diagnosis Support for families with unknown genetic disorders.