Spastic tetraplegia - retinitis pigmentosa - intellectual deficit
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Spastic quadriplegia - retinitis pigmentosa - intellectual deficit |
| Number of Symptoms | 8 |
| OrphanetNr: | 3011 |
| OMIM Id: |
270950
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare genetic intellectual deficit with developmental anomaly
-Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Syndromic retinitis pigmentosa -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000572) | Visual loss | 272 / 7739 | ||||
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(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0004374) | Hemiplegia/hemiparesis | Very frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0002510) | Spastic tetraplegia | 54 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Gordon et al. (1976) reported 2 sons, of consanguineous parents, who had ostensibly nonprogressive spastic paraplegia, retinitis pigmentosa, and mental retardation. This may be a distinct disorder. It occurred in an inbred Old American kindred of southern Maryland ... |