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 91 - 99 of 99 in total
HPO ID HPO Term
HP:0009623 Proximal placement of thumb
HP:0009830 Peripheral neuropathy
HP:0010034 Short 1st metacarpal
HP:0010300 Abnormally low-pitched voice
HP:0010864 Intellectual disability, severe
HP:0010880 Increased nuchal translucency
HP:0012165 Oligodactyly
HP:0030680 Abnormal cardiovascular system morphology
HP:0200055 Small hand
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