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Disorganization of the anterior cerebellar vermis

MedGen UID:
335171
Concept ID:
C1845369
Finding
Synonym: Disorganisation of the anterior cerebellar vermis
 
HPO: HP:0007065

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDisorganization of the anterior cerebellar vermis

Conditions with this feature

X-linked intellectual disability-cerebellar hypoplasia syndrome
MedGen UID:
336920
Concept ID:
C1845366
Disease or Syndrome
X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

Recent clinical studies

Etiology

Chao OY, Zhang H, Pathak SS, Huston JP, Yang YM
Cerebellum 2021 Dec;20(6):836-852. Epub 2021 Mar 4 doi: 10.1007/s12311-021-01246-7. PMID: 33661502Free PMC Article
Schmahmann JD, Sherman JC
Int Rev Neurobiol 1997;41:433-40. doi: 10.1016/s0074-7742(08)60363-3. PMID: 9378601

Therapy

Schmahmann JD, Sherman JC
Int Rev Neurobiol 1997;41:433-40. doi: 10.1016/s0074-7742(08)60363-3. PMID: 9378601

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