KBG syndrome

Term ID

DOID:14780

Synonyms

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. (2)

References

• GARD:82
• MESH:C537015
• OMIM:148050
• ORDO:2332
• SNOMEDCT_US_2023_03_01:711156009
• UMLS_CUI:C0220687

Ontology

Human Disease   ( DOID:14780 )