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GTR Home > Conditions/Phenotypes > Mulibrey nanism syndrome

Mulibrey nanism syndrome

Synonyms
Mulibrey Nanism; Muscle-liver-brain-eye nanism; Perheentupa syndrome; Pericardial constriction and growth failure
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Mulibrey nanism (MUL) is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor (summary by Hamalainen et al., 2006). [from OMIM]

Available tests

18 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MUL, POB1, TEF3, TRIM37
    Summary: tripartite motif containing 37

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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