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1,276 Possible Causes for Mutation in the TMEM240 Gene, Optic Nerve Hypoplasia

  • Glaucoma

    nerve hypoplasia.[ncbi.nlm.nih.gov] […] or retinal dysplasia, retinal detachment, or optic nerve hypoplasia.[doi.org] The third patient's OCT showed global RNFL and macular thinning from optic nerve hypoplasia.[ncbi.nlm.nih.gov]

    Missing: Mutation in the TMEM240 Gene
  • Coloboma

    nerve hypoplasia, ventricular and atrial septal defects, and growth delays.[ncbi.nlm.nih.gov] , WDR73, CWF19L1, VWA3B, THG1L, CHAMP1, PIGG Specificity 1 % Genes 100 % PAX6 Gene Sequencing.[mendelian.co] Patient has a family history of coloboma in her brother (Patient 1) and optic nerve hypoplasia in mother (Patient 3).[retinatoday.com]

  • Optic Atrophy

    NOTE: Optic nerve hypoplasia should not be confused with optic atrophy.[tsbvi.edu] Optic Nerve Hypoplasia: refers to underdevelopment of the optic nerve during pregnancy. Resources (1986).[tsbvi.edu] In addition, a bilateral asymmetrical optic nerve hypoplasia associated with right orbital bone hypoplasia was observed, suggesting the diagnosis of WF.[ncbi.nlm.nih.gov]

    Missing: Mutation in the TMEM240 Gene
  • Isolated optic nerve hypoplasia

    RESULTS: Children with optic nerve hypoplasia had significantly higher scores on the child behavioral checklist (p CONCLUSIONS: Our findings suggest that children with optic[ncbi.nlm.nih.gov] The identification and measurement of autistic features in children with optic nerve hypoplasia, "isolated" hypopituitarism and varying combinations of septo-optic Dysplasia[etheses.bham.ac.uk] An Inferior, Macular Sparing, Homonymous Quadrantanopia Associated with Segmental Optic Nerve Hypoplasia and Isolated, Unilateral, Anterior Medial Occipital Lobe Atrophy in[collections.lib.utah.edu]

    Missing: Mutation in the TMEM240 Gene
  • Autosomal Recessive Spastic Paraplegia Type 54

    On regular ophthalmological assessment, there were no signs of strabismus or optic-nerve hypoplasia.[bmcresnotes.biomedcentral.com] nerve hypoplasia And 21 more phenotypes.[mendelian.co] […] of the optic nerve ( Table 2 ) 8, 12, 13, 14.[nature.com]

    Missing: Mutation in the TMEM240 Gene
  • Autosomal Dominant Mental Retardation Type 21

    The gene, TMEM240, has various mutations in eight SCA families.[pediatricneurologybriefs.com] Optic Nerve Optic nerve hypoplasia occurs in approximately 10% of cases; optic nerve colobomas are also seen occasionally. [3] Retina Foveal hypoplasia is usually present.[eyewiki.aao.org] Optic nerve hypoplasia (underdevelopment of the optic nerve) Hypoplasia is generally manifested by nystagmus (involuntary eye movements, often side-to-side) and a smaller-than-usual[tsbvi.edu]

  • Cognitive Impairment with or without Cerebellar Ataxia

    The gene, TMEM240, has various mutations in eight SCA families.[pediatricneurologybriefs.com] The present researchers identified a coding mutation in the TMEM240 gene in the original SCA21 pedigree.[pediatricneurologybriefs.com] Investigators at Universite de Lille Nord de France, and other centers in France, report the identification of a novel causative gene for spinocerebellar ataxia 21, an autosomal[pediatricneurologybriefs.com]

  • Foster-Kennedy Syndrome

    This is important to bear in mind when examining children with optic nerve hypoplasia.[dx.doi.org] Conclusion From our findings we conclude that congenital optic nerve hypoplasia is a cause of pseudo-Foster Kennedy Syndrome.[dx.doi.org] […] pressure to the optic nerve head.[dx.doi.org]

    Missing: Mutation in the TMEM240 Gene
  • Congenital Optic Disc Coloboma

    With systemic associations • Optic disc coloboma • Morning glory anomaly • Optic nerve hypoplasia • Aicardi syndrome • Megalopapilla • Peripapillary staphyloma • Optic disc[edurev.in] Optic nerve hypoplasia. Arrow points to optic nerve.[mhmedical.com] […] of optic nerve hypoplasia.[obgynkey.com]

    Missing: Mutation in the TMEM240 Gene
  • Septo-Optic Dysplasia

    Septo-optic dysplasia (de Morsier syndrome) is a well-described entity that includes optic nerve hypoplasia and the absence of the septum pellucidum with or without pituitary[ncbi.nlm.nih.gov] General symptoms Optic nerve hypoplasia is a congenital underdevelopment of the optic nerve. Effect on vision varies from mild to severe on one eye or both.[mun-h-center.se] Introduction Optic nerve hypoplasia (ONH) is the congenital underdevelopment of the optic nerve. The exact etiology of ONH is presently unclear.[pedclerk.bsd.uchicago.edu]

    Missing: Mutation in the TMEM240 Gene

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