Submission Details

Submitter:

Classification:
Strong
GENCC:100002
Gene:
Disease:
cardiac anomalies - developmental delay - facial dysmorphism syndrome
Impaired intellectual development and distinctive facial features with or without cardiac defects
Mode Of Inheritance:
Autosomal dominant
Evaluated Date:
01/16/2025
PubMed IDs:
23403903 29959045 29511999 29159987 28645799 28371282 25758992 25712080 25137640 24781760 29593475 32646507 33930262 34654706 34713510
Public Report:
Assertion Criteria:
Submitter Submitted Date:
07/02/2025

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.