Disease - Cohen-Gibson syndrome
- DefinitionAn autosomal dominant overgrowth disorder characterized by accelerated osseous maturation, advanced bone age, skeletal abnormalities including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, scoliosis, cervical spine anomalies, dysmorphic facial features, and variable intellectual disability.
- AcronymCOGIS
- Cross references
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Browse 1 entry- Polycomb protein EED · Gene: EED · Homo sapiens (Human) · 441 amino acids · Evidence at protein level · Annotation score: 5/5