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1,700 Possible Causes for Agenesis of the Occipital Lobes, Retinal Dysplasia

  • Congenital Muscular Dystrophy

    […] dystrophy syndrome Chemke syndrome COD-MD syndrome HARD syndrome hydrocephalus, agyria, and retinal dysplasia MDDGA muscular dystrophy-dystroglycanopathy (congenital with[ghr.nlm.nih.gov] Uncommonly, agenesis of septum pellucidum can be seen. Polymicrogyria typically seen in the frontal and parietal lobes.[neuroradiologycases.com] dysplasia).[rarediseases.org]

  • Muscular Dystrophy-Dystroglycanopathy Type A4

    , retinal dysplasia and gyral malformations are not commonly appreciated in FCMD 7.[radiopaedia.org] Uncommonly, agenesis of septum pellucidum can be seen. Polymicrogyria typically seen in the frontal and parietal lobes.[neuroradiologycases.com] Walker-Warburg Syndrome Clinical Characteristics Ocular Features: The eyes are usually small and contain either retinal dysplasia or a congenital retinal detachment.[disorders.eyes.arizona.edu]

  • Patau Syndrome

    Heart defects Structural eye defects, including microphthalmia, Peters anomaly, cataract, iris and/or fundus (coloboma), retinal dysplasia or retinal detachment, sensory nystagmus[cytogenx.com] : most well known associated CNS anomaly: 40-50% 9 microcephaly fetal hydrocephalus enlarged cisterna magna agenesis of the corpus callosum persistent stapedial artery 5 retinal[radiopaedia.org] Structural eye defects, including microphthalmia, Peters' anomaly, cataract, iris or fundus (coloboma), retinal dysplasia or retinal detachment, sensory nystagmus, cortical[en.wikipedia.org]

    Missing: Agenesis of the Occipital Lobes
  • Norrie Disease

    X-linked primary retinal dysplasia (PRD) refers to an abnormal proliferation of retinal tissue causing either its neural elements or its glial tissue to form folds, giving[ncbi.nlm.nih.gov] Norrie disease (congenital retinal detachment), X-linked primary retinal dysplasia (congenital retinal fold), and X-linked exudative vitreoretinopathy (congenital macular[ncbi.nlm.nih.gov] Due to ophthalmological and audio-otological findings, including bilateral retinal dysplasia and detachment, progressive bilateral sensorineural hearing loss, and an X-linked[ncbi.nlm.nih.gov]

    Missing: Agenesis of the Occipital Lobes
  • Persistent Hyperplastic Primary Vitreous

    PHPV rarely is bilateral in patients with Norrie's disease, Warburg syndrome, or patients with retinal dysplasia.[ncbi.nlm.nih.gov] Histological examination showed retrolental fibrovascular tissue and retinal dysplasia.[ncbi.nlm.nih.gov] Six eyes (17%) maintained Snellen visual acuity despite posterior PHPV with some degree of retinal dysplasia.[ncbi.nlm.nih.gov]

    Missing: Agenesis of the Occipital Lobes
  • Uncombable Hair Syndrome

    Several conditions are associated with uncombable hair, such as ectodermal dysplasia, retinal dysplasia/ pigmentary dystrophy, juvenile cataract, digit abnormalities, tooth[oadoi.org]

    Missing: Agenesis of the Occipital Lobes
  • Retinohepatoendocrinologic Syndrome

    dysplasia X linked Retinal telangiectasia hypogammaglobulinemia Retinis pigmentosa deafness hypogenitalism Retinitis pigmentosa mental retardation deafness Retinitis pigmentosa-deafness[mindmappedia.com] […] degeneration Retinal dysplasia X linked Retinal telangiectasia hypogammaglobulinemia Retinis pigmentosa deafness hypogenitalism Retinitis pigmentosa mental retardation deafness[fact-index.com] Retinal Dysplasia, X - Linked Retinal Dystrophy Retinal Edema Retinal Hemorrhage Retinal Migraine Retinal Neovascularization Retinal Scarring Retinal Tear Retinal Telangiectasia[healthgrades.com]

    Missing: Agenesis of the Occipital Lobes
  • Microphthalmos

    Ocular findings in this case included clinical anophthalmos with bilateral fused eyelids, optic nerve aplasia, absent cornea and lens, and retinal dysplasia.[ncbi.nlm.nih.gov] Orbital and cranial computerized tomographic scanning and magnetic resonance imaging demonstrated bilateral microphthalmos and presumed retinal dysplasia, hypoplasia of the[ncbi.nlm.nih.gov] Other congenital diseases such as microcornea , microcoria , heterochromia iridis , microlentia , cataracts , retinal dysplasia , retinal detachment , anterior segment dysgenesis[vetbook.org]

    Missing: Agenesis of the Occipital Lobes
  • Micturition Syncope

    Three had anterior segment dysgenesis; 4, congenital lens abnormalities; 14, chorioretinal colobomas; 12, persistent hyperplastic primary vitreous; 4, retinal dysplasia; and[jamanetwork.com] Ocular abnormalities are microcornea, corneal opacification, corectopia, ectopia lentis, aniridia, cataract, persistent fetal vasculature and/or retinal dysplasia.[eyewiki.aao.org]

    Missing: Agenesis of the Occipital Lobes
  • Senior-Løken Syndrome

    .: Hereditary renal-retinal dysplasia. Ann. Intern. Med. 70: 735-744, 1969. PubMed ID: 5771531 Caridi, G., Murer, L., Bellaneuono, R., Sorino, p.[wohproject.org] […] syndrome Senior-Loken Syndrome type 1 SENIOR-LOKEN SYNDROME 1 SLSN1 SENIOR-LOKEN SYNDROME 1; SLSN1 Renal Dysplasia and Retinal Aplasia Loken-Senior Syndrome Senior-Loken[wikidata.org] Synonyms of Senior Løken Syndrome juvenile nephronophthisis with leber amaurosis renal dysplasia and retinal aplasia renal dysplasia-blindness, hereditary renal-retinal dysplasia[rarediseases.org]

    Missing: Agenesis of the Occipital Lobes

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