About: Spinal muscular atrophy with lower extremity predominance 2B

An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) is a rare neuromuscular disorder characterised by generalised muscle weakness.

Property	Value
dbo:abstract	Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) is a rare neuromuscular disorder characterised by generalised muscle weakness. (en)
dbo:medicalCause	dbr:BICD2
dbo:omim	618291 (xsd:integer)
dbo:thumbnail	wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg?width=300
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dbo:wikiPageRevisionID	1046803153 (xsd:integer)
dbo:wikiPageWikiLink	dbr:BICD2 dbr:Mutation dbc:Neurogenetic_disorders dbr:Arthrogryposis_multiplex_congenita dbc:Neuromuscular_disorders dbc:Systemic_atrophies_primarily_affecting_the_central_nervous_system dbr:Gene dbr:Contracture dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_1 dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_2A dbr:Autosomal_dominant dbc:Rare_diseases dbr:Hypotonia dbc:Autosomal_dominant_disorders dbr:Spinal_muscular_atrophies
dbp:caption	Spinal muscular atrophy with lower extremity predominance 2B is inherited in an autosomal dominant manner. (en)
dbp:causes	Mutations in BICD2 gene (en)
dbp:diagnosis	Molecular test (en)
dbp:duration	Lifetime (en)
dbp:field	Neurology (en)
dbp:onset	Infancy (en)
dbp:prognosis	Life limiting (en)
dbp:symptoms	Generalised severe hypotonia at birth (en)
dbp:synonyms	Lower extremity-predominant spinal muscular atrophy type 2B, SMALED2B (en)
dbp:wikiPageUsesTemplate	dbt:Genetic-disorder-stub dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Short_description dbt:CNS_diseases_of_the_nervous_system
dcterms:subject	dbc:Neurogenetic_disorders dbc:Neuromuscular_disorders dbc:Systemic_atrophies_primarily_affecting_the_central_nervous_system dbc:Rare_diseases dbc:Autosomal_dominant_disorders
rdf:type	owl:Thing wikidata:Q12136 dbo:Disease
rdfs:comment	Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) is a rare neuromuscular disorder characterised by generalised muscle weakness. (en)
rdfs:label	Spinal muscular atrophy with lower extremity predominance 2B (en)
owl:sameAs	wikidata:Spinal muscular atrophy with lower extremity predominance 2B https://global.dbpedia.org/id/FTZiK
prov:wasDerivedFrom	wikipedia-en:Spinal_muscular_atrophy_with_lower_ext...predominance_2B?oldid=1046803153&ns=0
foaf:depiction	wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg
foaf:isPrimaryTopicOf	wikipedia-en:Spinal_muscular_atrophy_with_lower_extremity_predominance_2B
is dbo:wikiPageDisambiguates of	dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance
is dbo:wikiPageRedirects of	dbr:SMALED2B
is dbo:wikiPageWikiLink of	dbr:BICD2 dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_1 dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_2A dbr:Spinal_muscular_atrophies dbr:SMALED2B
is foaf:primaryTopic of	wikipedia-en:Spinal_muscular_atrophy_with_lower_extremity_predominance_2B