Mulibrey Nanism

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Annotated Information

Classification and Resources

ID 127
ICD-10
ICD-9-CM
OMIM OMIM:253250;
SNOMED-CT
Orphanet
MeSH MSH:D050336;
DO

Defination

Mulibrey nanism (MUscle-LIver-BRain-EYe nanism), also called Perheentupa syndrome and pericardial constriction with growth failure, is a rare autosomal recessive congenital disorder It causes severe growth failure (dwarfism) along with abnormalities of the heart, muscle, liver, brain and eye Mulibrey nanism has been associated with a recessive defect in the gene TRIM TRIM is responsible for various cellular functions including developmental patterning~

Synonyms

Muscle-Liver-Brain-Eye Nanism  ; Perheentupa Syndrome  ; PERICARDIAL CONSTRICTION AND GROWTH FAILURE  ;

Etiology

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Symptoms

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