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(HPO:0000524) | Conjunctival telangiectasia | 17 / 7739 | ||||
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(HPO:0000664) | Synophrys | 112 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0001999) | Abnormal facial shape | 169 / 7739 | ||||
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(OMIM) | Peculiar facies | 7 / 7739 | ||||
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(OMIM) | Low serum IgA | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |