Oculo-reno-cerebellar syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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28
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OrphanetNr:
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2715
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OMIM Id:
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal dominant inheritance
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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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No data available.
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1
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(HPO:0000083)
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Renal insufficiency |
Very frequent [Orphanet]
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232 / 7739
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2
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(HPO:0100820)
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Glomerulopathy |
Very frequent [Orphanet]
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46 / 7739
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3
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(HPO:0000093)
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Proteinuria |
Very frequent [Orphanet]
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169 / 7739
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4
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(HPO:0012371)
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Hyperplasia of midface |
Frequent [Orphanet]
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10 / 7739
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5
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(HPO:0000272)
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Malar flattening |
Frequent [Orphanet]
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277 / 7739
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6
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(HPO:0000298)
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Mask-like facies |
Occasional [Orphanet]
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44 / 7739
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7
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(HPO:0000154)
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Wide mouth |
Frequent [Orphanet]
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137 / 7739
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8
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(HPO:0000303)
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Mandibular prognathia |
Frequent [Orphanet]
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179 / 7739
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9
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(HPO:0000275)
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Narrow face |
Frequent [Orphanet]
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76 / 7739
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10
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(HPO:0000518)
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Cataract |
Occasional [Orphanet]
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454 / 7739
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11
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(HPO:0000572)
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Visual loss |
Frequent [Orphanet]
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272 / 7739
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12
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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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13
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(HPO:0000486)
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Strabismus |
Very frequent [Orphanet]
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576 / 7739
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14
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(HPO:0008046)
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Abnormality of the retinal vasculature |
Very frequent [Orphanet]
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41 / 7739
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15
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(HPO:0009748)
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Large earlobe |
Occasional [Orphanet]
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27 / 7739
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16
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(HPO:0001347)
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Hyperreflexia |
Frequent [Orphanet]
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363 / 7739
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17
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(HPO:0004374)
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Hemiplegia/hemiparesis |
Frequent [Orphanet]
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158 / 7739
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18
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(HPO:0001276)
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Hypertonia |
Frequent [Orphanet]
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317 / 7739
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19
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(HPO:0001852)
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Sandal gap |
Frequent [Orphanet]
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63 / 7739
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20
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(HPO:0001382)
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Joint hypermobility |
Very frequent [Orphanet]
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231 / 7739
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21
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(HPO:0002650)
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Scoliosis |
Occasional [Orphanet]
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705 / 7739
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22
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(HPO:0004322)
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Short stature |
Frequent [Orphanet]
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1232 / 7739
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23
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(HPO:0001053)
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Hypopigmented skin patches |
Occasional [Orphanet]
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80 / 7739
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24
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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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25
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(HPO:0400004)
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Long ear |
Frequent [Orphanet]
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94 / 7739
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26
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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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27
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(HPO:0002334)
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Abnormality of the cerebellar vermis |
Frequent [Orphanet]
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137 / 7739
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28
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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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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |