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 )

Relationships
is a type of: autosomal recessive disease syndrome