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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001743) | Abnormality of the spleen | 37 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(OMIM) | Lipid deposits, liver, spleen, cerebral cortex and spinal cord | 1 / 7739 | ||||
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(OMIM) | Enlarged | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |