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Isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21

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dbo:alias
  • Ectopia lentis, isolated autosomal recessive. (en)
dbo:description
  • isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21 (en)
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dbp:causes
dbp:deaths
  • (en)
dbp:frequency
  • rare, about 62 cases from 10–20 families worldwide have been described in medical literature (en)
dbp:name
  • Autosomal recessive isolated ectopia lentis (en)
dbp:prevention
  • None (en)
dbp:prognosis
  • Medium (en)
dbp:risks
  • Being part of a consanguineous family. (en)
dbp:specialty
dbp:symptoms
  • Ectopia lentis with no other eye abnormalities (en)
dbp:synonyms
  • Ectopia lentis, isolated autosomal recessive. (en)
dbp:types
  • This is a subtype of isolated ectopia lentis, the other type is autosomal dominant isolated ectopia lentis. (en)
dbp:wikiPageUsesTemplate
dct:subject
rdf:type
rdfs:label
  • Autosomal recessive isolated ectopia lentis (en)
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