Shortened inner dynein arms

MedGen UID:: 867508
•Concept ID:: C4021890
•: Anatomical Abnormality

HPO:	HP:0200107

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CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVShortened inner dynein arms

Abnormal respiratory system physiology
- Abnormal respiratory system morphology
  - Abnormal respiratory epithelium morphology
    - Abnormal respiratory motile cilium morphology
      - Dynein arm defect of respiratory motile cilia
        Absent/shortened dynein arms
        Shortened inner dynein arms

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Therapy

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

Mazor M, Alkrinawi S, Chalifa-Caspi V, Manor E, Sheffield VC, Aviram M, Parvari R
Am J Hum Genet 2011 May 13;88(5):599-607. Epub 2011 Apr 14 doi: 10.1016/j.ajhg.2011.03.018. PMID: 21496787 Free PMC Article

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Clinical prediction guides

Ultrastructural abnormalities of bronchial cilia in children with recurrent airway infections and bronchiectasis.

Corbeel L, Cornillie F, Lauweryns J, Boel M, van den Berghe G
Arch Dis Child 1981 Dec;56(12):929-33. doi: 10.1136/adc.56.12.929. PMID: 7332340 Free PMC Article

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Shortened inner dynein arms

Term Hierarchy

Recent clinical studies

Therapy

Clinical prediction guides

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