Maladies localisées sur le chromosome 7 |
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Pathologie | Transmission | O.M.I.M | Locus | Gène | Protéine codée par le gène |
Bras long |
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Holoproencéphalie | | | | | |
| | | Q36 | | |
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Syndrome de Romano-Ward | | | | | |
| | | Q35 | | |
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| | | Q33 | | |
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| | | Q32 | | |
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Mucoviscidose | | | Q31.2 | | C.F.T.R. (cystic fibrosys transmembrane conductance régulator) |
Maladie du sirop d'érable | | | | | |
Syndrome de Pendred | | | Q31 | | |
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Microlissencéphalie | | | | | |
| | | Q22 | | |
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Dystonie myoclonique | | | | | |
Hyperthermie maligne | | | | | |
| | | Q21 | | |
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Syndrome de Williams | | | Q11.23 | | |
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| | | Q11 | | |
| | | Q11 | | |
Dystrophie musculaire des ceintures Type 1D | | | | | |
Maladie de Charcot-Marie-Tooth type 2 | | | | | |
Bras court |
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| | | P11 | | |
Syndrome de Silver-Russel | | | P11.2 | | |
| | | P12 | | |
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| | | P13 | | |
Syndrome de Greig | | | | | |
Syndrome de Pallister-Hall | | | | | |
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| | | P14 | | |
Syndrome main pied utérus | Dominante | 140000 | p14.2-p15 | HOXA13 | |
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| | | p15 | | |
Maladie de Charcot-Marie-Tooth type 2 | | | | | |
Surdité d'origine génétique | | | | | |
| | | P21 | | |
Syndrome de Saethre-Chotzen | | | | | |
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| | | P22 | | |
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