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

X-linked complicated corpus callosum dysgenesis is a genetic disorder characterized by dysplasia, hypoplasia or agenesis of the corpus callosum alongside variable intellectual disability and spastic paraplegia. Only 13 cases (all male) have been described in medical literature. Transmission is X-linked recessive. It is the mildest subtype of L1 syndrome. This condition differs from other L1 syndromes due to the fact that neither hydrocephalus, adducted thumbs, or speech difficulties are common in patients with the condition.

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dbo:abstract
  • X-linked complicated corpus callosum dysgenesis is a genetic disorder characterized by dysplasia, hypoplasia or agenesis of the corpus callosum alongside variable intellectual disability and spastic paraplegia. Only 13 cases (all male) have been described in medical literature. Transmission is X-linked recessive. It is the mildest subtype of L1 syndrome. This condition differs from other L1 syndromes due to the fact that neither hydrocephalus, adducted thumbs, or speech difficulties are common in patients with the condition. (en)
dbo:alias
  • (en)
  • X-linked complicated corpus callosum agenesis, X-linked partial corpus callosum agenesis, X-linked partial agenesis of corpus callosum. (en)
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  • 7882 (xsd:nonNegativeInteger)
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  • 1109059365 (xsd:integer)
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dbp:causes
dbp:deaths
  • 3 (xsd:integer)
dbp:frequency
  • rare (en)
dbp:name
  • X-linked complicated corpus callosum dysgenesis (en)
dbp:prevention
  • none (en)
dbp:prognosis
  • Medium (en)
dbp:specialty
dbp:synonyms
  • X-linked complicated corpus callosum agenesis, X-linked partial corpus callosum agenesis, X-linked partial agenesis of corpus callosum. (en)
dbp:types
  • This condition is part of the L1 spectrum disorders, also known as L1 syndrome. (en)
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rdfs:comment
  • X-linked complicated corpus callosum dysgenesis is a genetic disorder characterized by dysplasia, hypoplasia or agenesis of the corpus callosum alongside variable intellectual disability and spastic paraplegia. Only 13 cases (all male) have been described in medical literature. Transmission is X-linked recessive. It is the mildest subtype of L1 syndrome. This condition differs from other L1 syndromes due to the fact that neither hydrocephalus, adducted thumbs, or speech difficulties are common in patients with the condition. (en)
rdfs:label
  • X-linked complicated corpus callosum dysgenesis (en)
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