Supplementary Tables

Whole exome-sequencing (WES) data from the case of a Moroccan girl with a phenotype within the clinical spectrum of both Hallermann-Streiff (HSS, OMIM 234100) and Oculodentodigital Dysplasia (ODDD, OMIM 164200) syndromes. <br>Several clinical features of ODDD overlap those of HSS and may confuse diagnosis, considering that the inheritance of HSS is not described yet. The diagnostic odyssey of this patient ended with the identification by exome sequencing of a novel homozygous alteration in the GJA1 gene. A missense substitution in exon 2 (Chr6(GRCh37): g.121768554C&gt;G 561 561 NM_000165.4: c.561C&gt;G p.Cys187Trp) was identified by WES, suggesting a diagnosis of ODDD.<br>Parents gave written informed consent for the transfer of clinical data in D4/phenodent database (www.phenodent.org), genetic testing (GenoDENT) and DNA biobanking (https://clinicaltrials.gov: NCT01746121 et NCT02397824; DC-2012-1677 et DC-2012-1002), and the current publication.<br><br><br>