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Many people with Mulibrey nanism have parents who are closely related (consanguine).
A rare disease, Mulibrey nanism may be a Finnish heritage disease.
Individuals with Mulibrey nanism have also been reported to have mental retardation, tumors, and infertility.
Mulibrey nanism has been associated with a recessive defect in the gene TRIM37.
This constellation is characteristic of Mulibrey nanism, but has also been described in Russell-Silver syndrome and Turner syndrome.
Three rare causes of dwarfism are included in the Finnish heritage: cartilage-hair hypoplasia, diastrophic dysplasia and Mulibrey nanism.
A person with Mulibrey nanism has growth retardation, a short broad neck, misshapen sternum, small thorax, square shoulders, triangular face, unusual voice, enlarged liver, and yellowish dots in the ocular fundi.
Mulibrey nanism ("MUscle-LIver-BRain-EYe nanism"), also called Perheentupa syndrome and pericardial constriction with growth failure, is a rare autosomal recessive congenital disorder.
Muscle-liver-brain Nanism Pericardial Constriction and Growth Failure Perheentupa Syndrome None Mulibrey nanism is an extremely rare autosomal recessive genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes.