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Congenital horizontal nystagmus

MedGen UID:
1632792
Concept ID:
C4551997
Disease or Syndrome
Synonym: Congenital nystagmus, horizontal
 
HPO: HP:0007859

Definition

Horizontal nystagmus dating from or present at birth. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital horizontal nystagmus

Conditions with this feature

Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
MedGen UID:
1794216
Concept ID:
C5562006
Disease or Syndrome
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (NEDLAS) is characterized by axial hypotonia and global developmental delay apparent in early infancy. Affected individuals have delayed walking with gait ataxia and poor language development. Behavioral abnormalities also commonly occur. The severity is highly variable: a subset of patients have a more severe phenotype with early-onset seizures resembling epileptic encephalopathy, inability to walk or speak, and hypomyelination on brain imaging (summary by Stolz et al., 2021).

Professional guidelines

PubMed

Teodorescu L
Rom J Ophthalmol 2015 Jul-Sep;59(3):137-40. PMID: 26978880Free PMC Article
Richards MD, Wong A
Can J Ophthalmol 2015 Dec;50(6):400-8. doi: 10.1016/j.jcjo.2015.07.010. PMID: 26651297
Thurtell MJ
Semin Neurol 2015 Oct;35(5):522-6. Epub 2015 Oct 6 doi: 10.1055/s-0035-1563575. PMID: 26444397

Recent clinical studies

Etiology

Fielder AR, Evans NM
Eye (Lond) 1988;2 ( Pt 6):628-35. doi: 10.1038/eye.1988.116. PMID: 3256500

Diagnosis

Kingsmore SF, Ramchandar N, James K, Niemi AK, Feigenbaum A, Ding Y, Benson W, Hobbs C, Nahas S, Chowdhury S, Dimmock D
Cold Spring Harb Mol Case Stud 2020 Feb;6(1) Epub 2020 Feb 3 doi: 10.1101/mcs.a004705. PMID: 32014857Free PMC Article
Ragi SD, Lima de Carvalho JR Jr, Tanaka AJ, Park KS, Mahajan VB, Maumenee IH, Tsang SH
Cold Spring Harb Mol Case Stud 2019 Dec;5(6) Epub 2019 Dec 13 doi: 10.1101/mcs.a004481. PMID: 31836589Free PMC Article

Prognosis

Kingsmore SF, Ramchandar N, James K, Niemi AK, Feigenbaum A, Ding Y, Benson W, Hobbs C, Nahas S, Chowdhury S, Dimmock D
Cold Spring Harb Mol Case Stud 2020 Feb;6(1) Epub 2020 Feb 3 doi: 10.1101/mcs.a004705. PMID: 32014857Free PMC Article

Clinical prediction guides

Kingsmore SF, Ramchandar N, James K, Niemi AK, Feigenbaum A, Ding Y, Benson W, Hobbs C, Nahas S, Chowdhury S, Dimmock D
Cold Spring Harb Mol Case Stud 2020 Feb;6(1) Epub 2020 Feb 3 doi: 10.1101/mcs.a004705. PMID: 32014857Free PMC Article

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