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(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
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(HPO:0002024) | Malabsorption | Very frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0001315) | Reduced tendon reflexes | Frequent [Orphanet] | 160 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0002066) | Gait ataxia | Frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0100022) | Abnormality of movement | Frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0000488) | Retinopathy | 75 / 7739 | ||||
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(HPO:0001146) | Pigmentary retinal degeneration | 24288038 | IBIS | 15 / 7739 | ||
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(HPO:0001927) | Acanthocytosis | 11 / 7739 | ||||
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(HPO:0002630) | Fat malabsorption | 11 / 7739 | ||||
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(HPO:0007305) | CNS demyelination | 21 / 7739 | ||||
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(HPO:0008181) | Abetalipoproteinemia | 1 / 7739 | ||||
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(HPO:0011096) | Peripheral demyelination | 28 / 7739 | ||||
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(OMIM) | 'Burr cells' | 4 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |