|
(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0000510) | Rod-cone dystrophy | 266 / 7739 | ||||
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(HPO:0000518) | Cataract | 454 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0010571) | Elevated levels of phytanic acid | 3 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |