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(HPO:0001274) | Agenesis of corpus callosum | 142 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0002059) | Cerebral atrophy | 171 / 7739 | ||||
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(HPO:0011002) | Osteopetrosis | 19 / 7739 | ||||
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(OMIM) | Infantile osteopetrosis | 1 / 7739 | ||||
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(OMIM) | Infantile neuroaxonal dystrophy | 1 / 7739 | ||||
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(OMIM) | Small hippocampus | 1 / 7739 | ||||
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(OMIM) | Neuroaxonal spheroids in parts of CNS and peripheral nerves | 1 / 7739 | ||||
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(HPO:0001522) | Death in infancy | 275 / 7739 |