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 41 - 50 of 99 in total
HPO ID HPO Term
HP:0000767 Pectus excavatum
HP:0000776 Congenital diaphragmatic hernia
HP:0000786 Primary amenorrhea
HP:0000823 Delayed puberty
HP:0000965 Cutis marmorata
HP:0001249 Intellectual disability
HP:0001250 Seizure
HP:0001252 Hypotonia
HP:0001276 Hypertonia
HP:0001385 Hip dysplasia
Displaying 1 entry
Gene ID Gene Symbol Description
9126 SMC3 structural maintenance of chromosomes 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024