Dubowitz syndrome

Summary
Synonym
  • Dubowitz's syndrome
Definition
A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.
Super Class
autosomal recessive disease syndrome
External Links
Disease Ontology
DOID:14796
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
Related Genes
Displaying entries 11 - 20 of 35 in total
Gene ID Gene Symbol Description Source
1634 DCN decorin
2348 FOLR1 folate receptor alpha
2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase
2653 GCSH glycine cleavage system protein H
2720 GLB1 galactosidase beta 1
2731 GLDC glycine decarboxylase
2821 GPI glucose-6-phosphate isomerase
3339 HSPG2 heparan sulfate proteoglycan 2
4968 OGG1 8-oxoguanine DNA glycosylase
5224 PGAM2 phosphoglycerate mutase 2

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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