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Abnormal eye physiology

MedGen UID:
868525
•Concept ID:
C4022924
•
Pathologic Function
Synonym: Abnormal vision physiology
 
HPO: HP:0012373

Definition

A functional anomaly of the eye. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal eye physiology

Professional guidelines

PubMed

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Melland H, Bumbak F, Kolesnik-Taylor A, Ng-Cordell E, John A, Constantinou P, Joss S, Larsen M, Fagerberg C, Laulund LW, Thies J, Emslie F, Willemsen M, Kleefstra T, Pfundt R, Barrick R, Chang R, Loong L, Alfadhel M, van der Smagt J, Nizon M, Kurian MA, Scott DJ, Ziarek JJ, Gordon SL, Baker K
Genet Med 2022 Apr;24(4):880-893. Epub 2022 Jan 29 doi: 10.1016/j.gim.2021.12.002. PMID: 35101335Free PMC Article

Recent clinical studies

Etiology

New Insights in 9q21.13 Microdeletion Syndrome: Genotype-Phenotype Correlation of 28 Patients.
De Falco A, Iolascon A, Ascione F, Piscopo C
Genes (Basel) 2023 May 21;14(5) doi: 10.3390/genes14051116. PMID: 37239476Free PMC Article

Diagnosis

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Melland H, Bumbak F, Kolesnik-Taylor A, Ng-Cordell E, John A, Constantinou P, Joss S, Larsen M, Fagerberg C, Laulund LW, Thies J, Emslie F, Willemsen M, Kleefstra T, Pfundt R, Barrick R, Chang R, Loong L, Alfadhel M, van der Smagt J, Nizon M, Kurian MA, Scott DJ, Ziarek JJ, Gordon SL, Baker K
Genet Med 2022 Apr;24(4):880-893. Epub 2022 Jan 29 doi: 10.1016/j.gim.2021.12.002. PMID: 35101335Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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    Consumer resources

    Reviews

    Related information

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      Related literature resources in PubMed

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