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(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0004374) | Hemiplegia/hemiparesis | Very frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0000572) | Visual loss | 272 / 7739 | ||||
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(HPO:0002510) | Spastic tetraplegia | 54 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |