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(HPO:0000505) | Visual impairment | 19864492 | IBIS | 297 / 7739 | ||
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(HPO:0000589) | Coloboma | hallmark [HPO] | 19864492 | IBIS | 47 / 7739 | |
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(HPO:0000639) | Nystagmus | 19864492 | IBIS | 555 / 7739 | ||
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(HPO:0007633) | Bilateral microphthalmos | hallmark [HPO] | 19864492 | IBIS | 13 / 7739 | |
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(HPO:0007750) | Hypoplasia of the fovea | 19864492 | IBIS | 11 / 7739 | ||
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(HPO:0007766) | Optic disc hypoplasia | 19864492 | IBIS | 7 / 7739 | ||
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(HPO:0009911) | Abnormality of the temporal bone | 1/2 [HPO] | 19864492 | IBIS | 1 / 7739 | |
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0010984) | Digenic inheritance | 4 / 7739 |