autosomal recessive Robinow syndrome

Summary
Synonym
  • COVESDEM syndrome
  • RRS
  • costovertebral segmentation defect-mesomelia syndrome
Definition
A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.
Super Class
Robinow syndrome autosomal recessive disease
External Links
Disease Ontology
DOID:0060764
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 31 - 35 of 35 in total
Gene ID Gene Symbol Description Source
11285 B4GALT7 beta-1,4-galactosyltransferase 7
56994 CHPT1 choline phosphotransferase 1
64132 XYLT2 xylosyltransferase 2
79623 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14
79947 DHDDS dehydrodolichyl diphosphate synthase subunit

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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