Spastic paraplegia - facial-cutaneous lesions
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Bahemuka-Brown syndrome
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Number of Symptoms
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9
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OrphanetNr:
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2819
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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
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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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Autosomal dominant complex spastic paraplegia
-Rare genetic disease
-Rare neurologic disease
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1
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(HPO:0001276)
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Hypertonia |
Very frequent [Orphanet]
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317 / 7739
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2
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(HPO:0002353)
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EEG abnormality |
Very frequent [Orphanet]
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188 / 7739
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3
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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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4
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(HPO:0002167)
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Neurological speech impairment |
Very frequent [Orphanet]
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308 / 7739
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5
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(HPO:0001347)
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Hyperreflexia |
Very frequent [Orphanet]
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363 / 7739
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6
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(HPO:0001288)
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Gait disturbance |
Very frequent [Orphanet]
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318 / 7739
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7
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(HPO:0001025)
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Urticaria |
Very frequent [Orphanet]
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73 / 7739
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8
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(HPO:0007400)
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Irregular hyperpigmentation |
Very frequent [Orphanet]
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72 / 7739
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9
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(HPO:0001053)
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Hypopigmented skin patches |
Very frequent [Orphanet]
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80 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |