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KBG syndrome MeSH Supplementary Concept Data 2025


MeSH Supplementary
KBG syndrome
Unique ID
C537015
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537015
Entry Term(s)
Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
Registry Numbers
0
Heading Mapped to
*Abnormalities, Multiple
*Bone Diseases, Developmental
*Intellectual Disability
*Tooth Abnormalities
*Facies
Frequency
61
Note
A hereditary autosomal dominant devleopmental disorder characterized by macrodontia of the upper central INCISORS, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, SEIZURES; and INTELLECTUAL DISABILITY. Mutations in the ANKRD11 gene have been identified. OMIM: 148050
Date of Entry
2010/08/25
Revision Date
2015/11/10
KBG syndrome Preferred
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