| Term Name: | endocrine-cerebro-osteodysplasia syndrome |
|---|---|
| Synonyms: | ECO syndrome |
| Definition: | A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase. |
| Ontology: | Human Disease [DOID:0060641] ( DOID:0060641 ) |