Cousin syndrome

What is Cousin syndrome?

Cousin syndrome is a rare syndrome characterized mainly by short stature at birth, unusual facial appearance and skeletal abnormalities involving the shoulder blades and hips. Intelligence may vary from normal to moderately delayed. Mutations in the TBX15 gene inherited in an autosomal recessive pattern have been suggested as the cause of this condition.

Last updated on 05-01-20

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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