Cornelia de Lange syndrome 4

Summary
Synonym
  • CDLS4
  • Cornelia De Lange syndrome 4 with or without midline brain defects
Definition
A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24.
Super Class
Cornelia de Lange syndrome autosomal dominant disease
External Links
Disease Ontology
DOID:0080508
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2131 EXT1 exostosin glycosyltransferase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q16394 Exostosin-1
The Human Phenotype Ontology
Displaying entries 31 - 40 of 99 in total
HPO ID HPO Term
HP:0000545 Myopia
HP:0000574 Thick eyebrow
HP:0000639 Nystagmus
HP:0000664 Synophrys
HP:0000667 Phthisis bulbi
HP:0000684 Delayed eruption of teeth
HP:0000687 Widely spaced teeth
HP:0000717 Autism
HP:0000722 Compulsive behaviors
HP:0000739 Anxiety
Displaying 1 entry
Gene ID Gene Symbol Description
9126 SMC3 structural maintenance of chromosomes 3

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024