|
(HPO:0000657) | Oculomotor apraxia | 18674751 | IBIS | 54 / 7739 | ||
|
(HPO:0001252) | Muscular hypotonia | 18674751 | IBIS | 990 / 7739 | ||
|
(HPO:0001263) | Global developmental delay | 18674751 | IBIS | 853 / 7739 | ||
|
(HPO:0002419) | Molar tooth sign on MRI | 18674751 | IBIS | 27 / 7739 | ||
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |