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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0001629) | Ventricular septal defect | 9837814 | IBIS | 316 / 7739 | ||
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(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
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(HPO:0008872) | Feeding difficulties in infancy | 153 / 7739 | ||||
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(HPO:0008935) | Generalized neonatal hypotonia | 9 / 7739 | ||||
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(HPO:0010655) | Epiphyseal stippling | 32 / 7739 | ||||
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(HPO:0011344) | Severe global developmental delay | 46 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0001522) | Death in infancy | 275 / 7739 |