endocrine-cerebro-osteodysplasia syndrome

Term ID

DOID:0060641

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. (2)

References

• ICD10CM:Q87.8
• OMIM:612651
• ORDO:199332

Ontology

Human Disease   ( DOID:0060641 )