|
|
(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
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|
(HPO:0000572) | Visual loss | Frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0000618) | Blindness | 124 / 7739 | ||||
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|
(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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|
(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
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|
(HPO:0000505) | Visual impairment | Frequent [Orphanet] | 297 / 7739 | |||
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|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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|
(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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|
(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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|
(HPO:0000365) | Hearing impairment | Very frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0001141) | Severe visual impairment | 11 / 7739 | ||||
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(HPO:0005193) | Restricted large joint movement | 1 / 7739 | ||||
|
|
(OMIM) | Severe hearing defect | 1 / 7739 | ||||
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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|
(HPO:0012795) | Abnormality of the optic disc | Very frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 | ||||
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(HPO:0003819) | Death in childhood | 42 / 7739 |