Human genes for Roberts syndrome
Roberts syndrome [DOID:5325]
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.
Synonyms: Roberts syndrome, DOID:5325, Roberts disease, Roberts disorder, Roberts syndromes ...
Linkouts: OMIM