endocrine-cerebro-osteodysplasia syndrome (DOID:0060641)
Alliance: disease page
Synonyms: ECO syndrome
Alt IDs: OMIM:612651, ICD10CM:Q87.8, ORDO:199332
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.