Mulibrey nanism (MUscle-LIver-BRain-EYe nanism) is a rare growth disorder of prenatal onset caused by mutations in the TRIM37 gene. Mulibrey nanism is inherited autosomally recessively, and is characterized by prenatal-onset growth failure, constrictive cardiopathy, hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the retinal midperiphery, and typical appearance.
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- Patient: Mulibrey Nanism Factsheet on this rare autosomal recessive disorder, its clinical features, associated diseases and management.
- Online Inheritance in Man Summarizes the state of knowledge of mulibrey nanism, also known as Perheentupa Syndrome.