Gene Symbol:
CTCF
HGNC:13723
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
16q22.1
Filters:

Intellectual disability, autosomal dominant 40 classifications

intellectual disability, autosomal dominant 40
Submitted as: OMIM:616579
AD
07/22/2015
Evaluated
09/11/2023
Submitted

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome classifications

intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Submitted as: OMIM:615502
AD
05/28/2020
Evaluated
03/02/2021
Submitted
intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Submitted as: Orphanet:363611
AD
09/14/2021
Evaluated
09/14/2021
Submitted
intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Submitted as: OMIM:615502
AD
06/23/2023
Evaluated
11/30/2023
Submitted

Syndromic intellectual disability classifications

syndromic intellectual disability
AD
07/21/2021
Evaluated
04/21/2024
Submitted

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.