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PEPPER SYNDROME [1 record]

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Record 1 2019-11-18

English

Subject field(s)
  • Human Diseases - Various
  • Genetics
CONT

Cohen syndrome (CS) is an autosomal recessive disorder with variability in the clinical manifestations, characterised by mental retardation, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Mutations in the gene COH1 have been found in an ethnically diverse series of patients.

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
DEF

[...] trouble génétique rare du développement[, à transmission autosomique récessive,] caractérisé par une microcéphalie, une dysmorphie faciale, une hypotonie, une déficience intellectuelle non progressive, une myopie, une dystrophie rétinienne, une neutropénie et une obésité tronculaire.

Spanish

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