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Aplasia/Hypoplasia of the brainstem

MedGen UID:
870458
•Concept ID:
C4024904
•
Finding
Synonyms: Absent/small brainstem; Absent/underdeveloped brainstem
 
HPO: HP:0007362

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAplasia/Hypoplasia of the brainstem

Professional guidelines

PubMed

Auditory neuropathy/dyssynchrony as a cause of failed neonatal hearing screening.
Maris M, Venstermans C, Boudewyns AN
Int J Pediatr Otorhinolaryngol 2011 Jul;75(7):973-5. Epub 2011 May 19 doi: 10.1016/j.ijporl.2011.04.012. PMID: 21596446

Recent clinical studies

Prognosis

Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression.
Rochtus AM, Trowbridge S, Goldstein RD, Sheidley BR, Prabhu SP, Haynes R, Kinney HC, Poduri AH
Cold Spring Harb Mol Case Stud 2019 Feb;5(1) Epub 2019 Feb 1 doi: 10.1101/mcs.a003442. PMID: 30709877Free PMC Article

Clinical prediction guides

Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression.
Rochtus AM, Trowbridge S, Goldstein RD, Sheidley BR, Prabhu SP, Haynes R, Kinney HC, Poduri AH
Cold Spring Harb Mol Case Stud 2019 Feb;5(1) Epub 2019 Feb 1 doi: 10.1101/mcs.a003442. PMID: 30709877Free PMC Article

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    Clinical resources

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    Reviews

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    • PMC Articles
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