Infantile symmetrical thalamic degeneration
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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8
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OrphanetNr:
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3311
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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 recessive 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:0001250)
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Seizures |
Frequent [Orphanet]
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1245 / 7739
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2
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(HPO:0001276)
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Hypertonia |
Very frequent [Orphanet]
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317 / 7739
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3
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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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4
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(HPO:0011025)
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Abnormality of cardiovascular system physiology |
Frequent [Orphanet]
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41 / 7739
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5
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(HPO:0002093)
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Respiratory insufficiency |
Very frequent [Orphanet]
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410 / 7739
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6
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(HPO:0001608)
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Abnormality of the voice |
Frequent [Orphanet]
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126 / 7739
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7
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(HPO:0002536)
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Abnormal cortical gyration |
Frequent [Orphanet]
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72 / 7739
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8
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(HPO:0011420)
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Death |
Very frequent [Orphanet]
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184 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |