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Mowat-Wilson syndrome due to monosomy 2q22

Code pathologie:

ORPHA:261537

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

Abnormal cellular phenotype (HP:0025354)
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)
Growth abnormality (HP:0001507)
Abnormality of the integument (HP:0001574)
Abnormality of the cardiovascular system (HP:0001626)
Abnormality of blood and blood-forming tissues (HP:0001871)
Abnormality of metabolism/homeostasis (HP:0001939)
Abnormality of the respiratory system (HP:0002086)
Abnormality of the immune system (HP:0002715)
Abnormality of the digestive system (HP:0025031)
Constitutional symptom (HP:0025142)
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 :

SNP array

Document(s) associé(s) :

Important

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