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Rare genetic disorder

Property Value
dbo:description
  • rare genetic disorder (en)
dbo:geneReviewsId
  • NBK536784
dbo:geneReviewsName
  • CDK13-Related Disorder (en)
dbo:medicalCause
dbo:medicalDiagnosis
dbo:omim
  • 617360 (xsd:integer)
dbo:symptom
dbo:thumbnail
dbo:treatment
dbo:wikiPageWikiLink
dbp:caption
  • Typical facial appearance of an individual with CDK13-related disorder (en)
dbp:causes
  • Genetic (en)
dbp:diagnosis
  • Genetic testing (en)
dbp:frequency
  • Not yet known. At least 44 individuals diagnosed . (en)
dbp:genereviewsname
  • CDK13-Related Disorder (en)
dbp:genereviewsnbk
  • NBK536784 (en)
dbp:imageSize
  • 300 (xsd:integer)
dbp:omim
  • 617360 (xsd:integer)
dbp:prognosis
  • Not yet certain. A few patients in mid-adulthood identified. (en)
dbp:symptoms
  • Congenital heart defects, intellectual disability, characteristic facial features, gastrointestinal dysmotility (en)
dbp:synonyms
  • Congenital heart defects, dysmorphic facial features and intellectual developmental disorder , CDK13-related CHDFIDD (en)
dbp:treatment
  • Gastroprokinetic medication, gastrostomy, speech therapy, assistive communication devices (en)
dbp:wikiPageUsesTemplate
dct:subject
rdf:type
rdfs:label
  • CDK13-related disorder (en)
  • الاضطراب المرتبط بجين CDK13 (ar)
  • Gangguan terkait CDK13 (in)
  • CDK13相关疾病 (zh)
owl:sameAs
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