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Cohen syndrome

Code pathologie:

OMIM:216550

Aire(s) thérapeutique(s) associée(s) :

Abnormality of the digestive system (HP:0025031)
Abnormality of the genitourinary system (HP:0000119)
Abnormality of head or neck (HP:0000152)
Abnormality of the eye (HP:0000478)
Abnormality of the ear (HP:0000598)
Abnormality of the nervous system (HP:0000707)
Abnormality of the endocrine system (HP:0000818)
Abnormality of prenatal development or birth (HP:0001197)
Growth abnormality (HP:0001507)
Abnormality of the integument (HP:0001574)
Abnormality of the voice (HP:0001608)
Abnormality of the cardiovascular system (HP:0001626)
Abnormality of blood and blood-forming tissues (HP:0001871)
Abnormality of the respiratory system (HP:0002086)
Abnormality of the immune system (HP:0002715)
Abnormality of the musculoskeletal system  (HP:0033127)
Abnormality of limbs (HP:0040064)
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Pré-analytique :

5 ml de sang total ou ADN extrait
Température ambiante

Délai :

4 semaines

Options disponibles :

Panel
Panel + CNV
Exome
Exome + CNV

Document(s) associé(s) :

Important

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