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(HPO:0000572) | Visual loss | Frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0001839) | Split foot | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0001171) | Split hand | 72 / 7739 | ||||
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(HPO:0009380) | Aplasia of the fingers | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0000486) | Strabismus | Frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Occasional [Orphanet] | 266 / 7739 | |||
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(HPO:0000639) | Nystagmus | Very frequent [Orphanet] | 9450888 | IBIS | 555 / 7739 | |
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(HPO:0000518) | Cataract | Occasional [Orphanet] | 454 / 7739 | |||
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(HPO:0004060) | Trident hand | Very frequent [Orphanet] | 13 / 7739 | |||
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(HPO:0000488) | Retinopathy | 75 / 7739 | ||||
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(HPO:0001163) | Abnormality of the metacarpal bones | Frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0004058) | Hand monodactyly | 8 / 7739 | ||||
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(HPO:0100257) | Ectrodactyly | 27 / 7739 | ||||
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(HPO:0200054) | Foot monodactyly | 6 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0006934) | Congenital nystagmus | 10 / 7739 |