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(HPO:0000707) | Abnormality of the nervous system | 61 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(OMIM) | Neurovisceral storage disease | 1 / 7739 | ||||
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(OMIM) | Intracellular curvilinear bodies (not gangliosides) on EM of rectal or other visceral biopsy | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |