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Statements

Subject Item
dbr:BICD2
dbo:wikiPageWikiLink
dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_2B
Subject Item
dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance
dbo:wikiPageWikiLink
dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_2B
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Subject Item
dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_1
dbo:wikiPageWikiLink
dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_2B
Subject Item
dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_2A
dbo:wikiPageWikiLink
dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_2B
Subject Item
dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_2B
rdf:type
dbo:Disease owl:Thing wikidata:Q12136
rdfs:label
Spinal muscular atrophy with lower extremity predominance 2B
rdfs:comment
Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) is a rare neuromuscular disorder characterised by generalised muscle weakness.
foaf:depiction
n13:Autosomal_dominant_-_en.svg
dcterms:subject
dbc:Systemic_atrophies_primarily_affecting_the_central_nervous_system dbc:Autosomal_dominant_disorders dbc:Neuromuscular_disorders dbc:Rare_diseases dbc:Neurogenetic_disorders
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65902066
dbo:wikiPageRevisionID
1046803153
dbo:wikiPageWikiLink
dbr:Contracture dbr:Arthrogryposis_multiplex_congenita dbc:Systemic_atrophies_primarily_affecting_the_central_nervous_system dbc:Neuromuscular_disorders dbr:Hypotonia dbr:Gene dbc:Autosomal_dominant_disorders dbc:Rare_diseases dbr:BICD2 dbc:Neurogenetic_disorders dbr:Spinal_muscular_atrophies dbr:Mutation dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_1 dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_2A dbr:Autosomal_dominant
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dbo:thumbnail
n13:Autosomal_dominant_-_en.svg?width=300
dbp:diagnosis
Molecular test
dbp:onset
Infancy
dbp:symptoms
Generalised severe hypotonia at birth
dbp:caption
Spinal muscular atrophy with lower extremity predominance 2B is inherited in an autosomal dominant manner.
dbp:causes
Mutations in BICD2 gene
dbp:duration
Lifetime
dbp:field
Neurology
dbp:synonyms
Lower extremity-predominant spinal muscular atrophy type 2B, SMALED2B
dbo:abstract
Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) is a rare neuromuscular disorder characterised by generalised muscle weakness.
dbp:prognosis
Life limiting
dbo:medicalCause
dbr:BICD2
prov:wasDerivedFrom
wikipedia-en:Spinal_muscular_atrophy_with_lower_extremity_predominance_2B?oldid=1046803153&ns=0
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Subject Item
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dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_2B
Subject Item
dbr:SMALED2B
dbo:wikiPageWikiLink
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Subject Item
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foaf:primaryTopic
dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_2B