|
|
(HPO:0000107) | Renal cyst | 19668216 | IBIS | 126 / 7739 | ||
|
|
(HPO:0000657) | Oculomotor apraxia | 19668216 | IBIS | 54 / 7739 | ||
|
|
(HPO:0001249) | Intellectual disability | 19668216 | IBIS | 1089 / 7739 | ||
|
|
(HPO:0001263) | Global developmental delay | 19668216 | IBIS | 853 / 7739 | ||
|
|
(HPO:0001251) | Ataxia | 19668216 | IBIS | 413 / 7739 | ||
|
|
(HPO:0001252) | Muscular hypotonia | 19668216 | IBIS | 990 / 7739 | ||
|
|
(HPO:0001395) | Hepatic fibrosis | 19668216 | IBIS | 67 / 7739 | ||
|
|
(HPO:0002419) | Molar tooth sign on MRI | 19668216 | IBIS | 27 / 7739 | ||
|
|
(HPO:0000488) | Retinopathy | 19668216 | IBIS | 75 / 7739 | ||
|
|
(HPO:0002094) | Dyspnea | 19668216 | IBIS | 132 / 7739 | ||
|
|
(HPO:0002910) | Elevated hepatic transaminases | 19668216 | IBIS | 158 / 7739 | ||
|
|
(HPO:0001357) | Plagiocephaly | 19668216 | IBIS | 106 / 7739 | ||
|
|
(HPO:0000252) | Microcephaly | 19668216 | IBIS | 832 / 7739 |