|
|
(HPO:0000618) | Blindness | 124 / 7739 | ||||
|
|
(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
|
|
(HPO:0000726) | Dementia | 131 / 7739 | ||||
|
|
(HPO:0002514) | Cerebral calcification | 89 / 7739 | ||||
|
|
(HPO:0003700) | Generalized amyotrophy | 39 / 7739 | ||||
|
|
(HPO:0008610) | Infantile sensorineural hearing impairment | 1 / 7739 | ||||
|
|
(OMIM) | Extensive CNS calcification in all structures, including meninges, vessels, and neurons at autopsy | 1 / 7739 | ||||
|
|
(OMIM) | Moderate diffuse skeletal muscle wasting | 1 / 7739 | ||||
|
|
(HPO:0001417) | X-linked inheritance | 173 / 7739 |