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GTR Home > Conditions/Phenotypes > Endocrine-cerebro-osteodysplasia syndrome

Endocrine-cerebro-osteodysplasia syndrome

Synonyms
Endocrine-cerebroosteodysplasia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. [from ORDO]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ECO, EJM10, ICK, LCK2, MRK, hICK, CILK1
    Summary: ciliogenesis associated kinase 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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