Disease - Imagawa-Matsumoto syndrome
- DefinitionAn autosomal dominant syndrome characterized by generalized overgrowth, dysmorphic features, musculoskeletal abnormalities, developmental delay and intellectual disability. Some patients have genitourinary and structural brain abnormalities.
- AcronymIMMAS
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Browse 1 entry- Polycomb protein SUZ12 · Gene: SUZ12 (CHET9, JJAZ1, KIAA0160) · Homo sapiens (Human) · 739 amino acids · Evidence at protein level · Annotation score: 5/5