Maladies localisées sur le chromosome 4 |
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Pathologie | Transmission | O.M.I.M | Locus | Gène | Protéine codée par le gène |
Bras long |
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Dysplasie de hanche (Type Beukes) | | | | | |
Dystrophie facio scapulo humérale | | | | | |
| | | Q35 | | |
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| | | Q34 | | |
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| | | Q32 | | |
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| | | Q31 | | |
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| | | Q28 | | |
Fibrodysplasie ossifiante progressive | Dominante | 135100 | q27-q31 | | |
Syndrome de Bardet-Biedl | | | q27 | | |
| | | Q27 | | |
| | | Q26 | | |
Syndrome de Romano-Ward | Dominante | | q25 | | |
| | | Q25 | | |
| | | Q24 | | |
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| | | Q22 | | |
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Polykystose rénale type dominant | Dominante | | q21-q23 | | |
| | | Q21 | | |
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| | | Q13 | | |
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Dystrophie musculaire des ceintures type E | | | q12 | | |
| | | Q12 | | |
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Bras court |
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| | | P11 | | |
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| | | P12 | | |
Syndrome d'Ondine | Dominante | 209880 | | | |
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| | | P13 | | |
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| | | P15 | | |
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| | | P16 | | |
Syndrome de Wolf-Hirschhorn | | | | | |
Syndrome d'Ellis-Van Creveld | | | | | |
Surdité d'origine génétique | Dominante | | p16.1 | | |
Achondroplasie | Dominante | | p16.3 | FGFR3 | |
Nanisme thanatophore | Dominante | | p16.3 | FGFR3 | |
Chorée de Huntington | Dominante | | p16.3 | | |
Syndrome de Muenke | Dominante | 602849 | p16.3 | FGFR3 | |
SADDAN | | | p16.3 | FGFR3 | |
Hypochondroplasie | Dominante | 146000 | p16.3 | FGFR3 | |
Syndrome de Hurler | Récessive | 607014 | p16.3 | | |
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