|OBO ID: DOID:5325|
|Term Name:||Roberts syndrome||Search Ontology:|
|Definition:||A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in ESCO2 on chromosome 8p21.1. (2)|
|Ontology:||Human Disease (DOID:5325)|
|is a type of:||
OTHER Roberts syndrome PAGES
PHENOTYPE No data available
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