A Patient With <scp> <i>TRAF7</i> </scp> ‐Related Neurodevelopmental Disorder Without Developmental Delay or Intellectual Disability

The authors declare no conflicts of interest. The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions. Data S1: Supplemental references S1–S6 (cga70030-sup-0001-Supinfo.docx). Table S1: Degree of developmental delay or intellectual disability (DD/ID) in patients with CAFDADD (N = 90), including the present patient. The data were compiled from references 1-4 and supplemental references S1–S6. Of the 92 previously reported patients, three lacked any developmental information and were excluded. The degree of DD/ID in the previously reported patients was determined by assessing the details of the relevant reports. If a patient was not explicitly graded, three pediatric specialists involved in the present study assessed severity using the patient's age and developmental or intellectual stage at the time of the report. Patients who were unable to be graded in this way were classified as “unknown.” Variant positions relative to RefSeq NP_115647.2 (corresponding to NM_032271.3) were given.S7 Domain assignment followed UniProtKB annotations for TRAF7 (Q6Q0C0): residues 394–669 were classified as “WD40-repeat”; otherwise, as “non–WD40-repeat”.S8 *Rows marked with an asterisk were used for the descriptive comparisons in the main text. †No “profound” DD/ID was observed in any stratum; therefore, a separate “profound” category is not shown. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.