HNRNPC-related neurodevelopmental disorder

[galyea123]

Label

HNRNPC-related neurodevelopmental disorder

Synonyms

No response

Synonym type

None

Definition

HNRNPC-related neurodevelopmental disorder is characterized by global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphism. It is caused by heterozygous HNRNPC germline variants.

Parent term

neurodevelopmental disorder

Children term(s)

No response

ORCID Identifier

No response

Website URL

No response

Additional comments

We were recently contacted by one of the authors of several publications related to the HNRNP gene family. They are writing reports for NORD and also there is a support organizations for patients and families affected with this condition that is requesting to have the reports.

HNRNPC: There is still not name for a condition related to HNRNP gene mutations and it is not listed in Orphanet or OMIM (and hence, not listed in MONDO either) but “data strongly support the inclusion of HNRNPC to the family of HNRNP-related neurodevelopmental disorders.” and there are more than three people reported [Sources: https://pubmed.ncbi.nlm.nih.gov/37541189/ https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-021-00870-6
See also the organization website: https://www.hnrnp.org/newlydiagnosed

Other helpful publications:
https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-021-00870-6
https://link.springer.com/article/10.1007/s00439-021-02412-x
https://www.researchgate.net/figure/Relationship-of-HNRNP-related-disorders-to-each-other-and-to-similarly-presenting_fig8_350989036
https://www.hnrnp.org/newlydiagnosed

Thank you! Gioconda Alyea