Spastic diplegia, infantile type
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Little syndrome
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Number of Symptoms
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9
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OrphanetNr:
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1680
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OMIM Id:
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270600
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ICD-10:
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G83.8
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UMLs:
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C1849139
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MeSH:
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C537481
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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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Infantile onset
[Omim]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Rare neurologic disease
-Rare neurologic disease
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1
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(HPO:0002705)
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High, narrow palate |
Very frequent [Orphanet]
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308 / 7739
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2
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(HPO:0004374)
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Hemiplegia/hemiparesis |
Very frequent [Orphanet]
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158 / 7739
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3
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(HPO:0001264)
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Spastic diplegia |
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24 / 7739
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4
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(HPO:0001347)
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Hyperreflexia |
Very frequent [Orphanet]
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363 / 7739
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5
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(HPO:0001249)
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Intellectual disability |
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1089 / 7739
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6
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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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7
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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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8
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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9
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(HPO:0003593)
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Infantile onset |
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249 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |