KBG syndrome

Summary
Definition
A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton.
Super Class
spinal disease syndrome
Disease Ontology
DOID:14780
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
29123 ANKRD11 ankyrin repeat domain containing 11
Displaying 1 entry
Gene ID Gene Symbol Description Source
77087 Ankrd11 ankyrin repeat domain 11

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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: December 9, 2024