Maladies localisées sur le chromosome 9 |
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Pathologie | Transmission | O.M.I.M | Locus | Gène | Protéine codée par le gène |
Bras long |
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Lipodystrophie congénitale de Berardinelli-Seip | Récessive | 269700 | q34.3 | AGPAT2 | |
Syndrome d'Ehlers-Danlos type classique | Dominante | | q34.2 | | |
Nail-Patella syndrome | Dominante | | | | |
Maladie de Rendu-Osler | Dominante | | q34.1 | | |
Sclérose tubéreuse de Bourneville | | | Q34 | | |
Syndrome de Walker-Warburg | Récessive | | q34 | | |
Citrullinémie | Récessive | | q34 | | |
Déficit en dopamine bêta-hydroxylase | Récessive | | q34 | | |
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| | | q33 | | |
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| | | q32 | | |
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Dystrophie musculaire des ceintures type 2H | | | q31 | | |
Syndrome de Fukuyama | Récessive | | q31 | | |
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Naevomatose baso-cellulaire | Dominante | | q22.3 | | |
Syndrome de Robinow | Récessive | | q22 | | |
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| | | q31 | | |
Neuropathie héréditaire sensitive et autonomique de type I | | | Q22.1 | | |
| | | q22 | | |
Lymphohistiocytose familiale | Récessive | | q21.3-q22 | PRF1 |
Neuroacanthocytose | | | q21 | | | |
| | | q21 | | |
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Holoproencéphalie | | | q22 | | |
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| | | q21 | | |
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Ataxie de Friedreich | Récessive | | Q13 | | |
Surdité d'origine génétique | Dominante | | q13 | | |
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| | | q12 | | |
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| | | q12 | | |
| | | q12 | | |
| | | q12 | | |
| | | Q12 | | |
| | | q12 | | |
| | | q11 | | |
| | | q11 | | |
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Bras court |
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| | | p11 | | |
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| | | p12 | | |
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Galactosémie | Récessive | | p13 | | |
Neutropénie congénitale sévère | Dominante | | p13 | | |
Neutropénie cyclique | Dominante | | p13 | | |
| | | p21 | | |
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Encéphalopathie glycinique | Récessive | | p22 | | |
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| | | p23 | | |
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| | | p24 | | |
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