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RAPADILINO syndrome

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Rapadilino syndrome
Other names Radial and patellar aplasia, Radial and patellar hypoplasia
Autorecessive.svg
Rapadilino syndrome has an autosomal recessive pattern of inheritance.
Specialty Medical genetics Edit this on Wikidata

RAPADILINO syndrome is an autosomal recessive disorder characterized by:

It is more prevalent in Finland than elsewhere in the world. It has been associated with the gene RECQL4. This is also associated with Rothmund–Thomson syndrome and Baller–Gerold syndrome.

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