3-M syndrome

Summary
Synonym
  • Le Merrer syndrome
  • Miller-McKusick-Malvaux syndrome
  • Yakut short stature syndrome
  • dolichospondylic dysplasia
  • gloomy face syndrome
  • three M syndrome
Definition
A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities.
Super Class
autosomal recessive disease syndrome
Disease Ontology
DOID:0060241
Mondo Disease Ontology
MeSH
UMLS
ORDO
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
9820 CUL7 cullin 7
23363 OBSL1 obscurin like cytoskeletal adaptor 1
Related Glycoprotein

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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: April 7, 2025