Cerebellar hypoplasia - tapetoretinal degeneration
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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16
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OrphanetNr:
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2246
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OMIM Id:
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213000
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ICD-10:
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Q04.3
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Syndrome with a cerebellar malformation as major feature
-Rare developmental defect during embryogenesis
-Rare neurologic disease
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1
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(HPO:0000572)
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Visual loss |
Very frequent [Orphanet]
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272 / 7739
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2
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(HPO:0000639)
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Nystagmus |
Very frequent [Orphanet]
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555 / 7739
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3
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(HPO:0000512)
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Abnormal electroretinogram |
Very frequent [Orphanet]
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61 / 7739
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4
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(HPO:0000510)
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Rod-cone dystrophy |
Very frequent [Orphanet]
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266 / 7739
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5
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(HPO:0002066)
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Gait ataxia |
Very frequent [Orphanet]
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327 / 7739
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6
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(HPO:0001251)
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Ataxia |
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413 / 7739
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7
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(HPO:0001337)
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Tremor |
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200 / 7739
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8
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(HPO:0001252)
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Muscular hypotonia |
Very frequent [Orphanet]
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990 / 7739
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9
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(HPO:0010547)
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Muscle flaccidity |
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466 / 7739
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10
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(HPO:0008947)
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Infantile muscular hypotonia |
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482 / 7739
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11
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(HPO:0001324)
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Muscle weakness |
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859 / 7739
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12
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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13
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(HPO:0002334)
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Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
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137 / 7739
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14
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(HPO:0012795)
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Abnormality of the optic disc |
Very frequent [Orphanet]
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187 / 7739
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15
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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16
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(HPO:0001321)
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Cerebellar hypoplasia |
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114 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |