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Uncontrolled eye movements

MedGen UID:
340279
Concept ID:
C1854686
Finding
HPO: HP:0007738

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Uncontrolled eye movements

Conditions with this feature

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
MedGen UID:
462869
Concept ID:
C3151519
Disease or Syndrome
An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.

Professional guidelines

PubMed

Shepherd J, Stein K, Milne R
Psychol Med 2000 Jul;30(4):863-71. doi: 10.1017/s0033291799002366. PMID: 11037095

Recent clinical studies

Etiology

Wardana GA, Suryaningtyas W, Parenrengi MA
Childs Nerv Syst 2023 Feb;39(2):547-551. Epub 2022 Aug 2 doi: 10.1007/s00381-022-05614-4. PMID: 35916968

Diagnosis

Khan J, Asif S, Ghani S, Khan H, Arshad MW, Khan SA, Lin S, Baple EL, Salter C, Crosby AH, Rawlins L, Shabbir MI
BMC Ophthalmol 2024 Aug 14;24(1):345. doi: 10.1186/s12886-024-03611-6. PMID: 39143519Free PMC Article
Nezri DG, Zlotnik A, Zalevsky Z
Appl Opt 2020 Jan 10;59(2):484-491. doi: 10.1364/AO.59.000484. PMID: 32225325
Alonso-Caneiro D, Iskander DR, Collins MJ
IEEE Trans Biomed Eng 2008 Oct;55(10):2381-7. doi: 10.1109/TBME.2008.923766. PMID: 18838363
Morris JP, Pelphrey KA, McCarthy G
Soc Cogn Affect Neurosci 2007 Mar;2(1):31-8. doi: 10.1093/scan/nsl023. PMID: 18176625Free PMC Article
Sahraie A
Curr Opin Neurol 2007 Dec;20(6):661-6. doi: 10.1097/WCO.0b013e3282f1c70f. PMID: 17992086

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