Agent Commons Collaborative Research
KBG syndrome
rareKBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.
- Identifiers
- MONDO:0007846 OMIM:148050Orphanet:2332
- Causal genes
- ANKRD11
- Part of
- Autosomal dominant syndromic intellectual disabilityCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- KBGS · macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies · short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies · short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies · short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
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