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3,503 Possible Causes for Learning Disabilities, Persistent Notochordal Canal, Small Optic Disc

  • Velocardiofacial Syndrome

    optic discs, posterior embryotoxon and tortous retinal vessels Congenital absence of nasolacrimal duct Hypocalcemia related to hypoparathyroidism Immune deficiency making[syndromespedia.com] Abstract Velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome, is a neurogenetic disorder that is associated with both learning disabilities and a consistent[ncbi.nlm.nih.gov] […] of one or both eyeballs (microphthalmia), and twisted vessels in the optic disc • Rupture or protrusion in the groin or central abdominal region (inguinal or umbilical hernia[rarediseases.org]

    Missing: Persistent Notochordal Canal
  • Optic Atrophy-Intellectual Disability Syndrome

    disc small and large excavation; MRI-brain normal - NHLRC2, NR2F1, PLAC1L, POF1B 6 1 Danielle Bosch 00039410 - PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016[databases.lovd.nl] Laura Waite (UK) Visual Impairment and Learning Disability Services (formerly Multiple Disability Service) RNIB's Visual Impairment and Learning Disability Service is an information[intellectualdisability.info] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de]

  • Congenital Non-Progressive Ataxia

    Ocular findings in 21 cases published since Gillespie's initial description in 1965 include iris and foveal hypoplasia, nystagmus, and small optic discs with pigmentary retinopathy[ncbi.nlm.nih.gov] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] In the Human PAX6 Allelic Variant Database, one of the three cases with S119R mutation had a learning disability and behavioral change; one of the 20 cases with c.1267dupT[molvis.org]

  • Dementia

    Retinitis in these 11 eyes was characterized by peripheral involvement (no optic disc or macular involvement in 10 eyes), small lesion size ( 10% of retinal surface area in[jamanetwork.com] […] basics -- 4.Progression of dementia -- 5.Alzheimer's disease -- 6.Vascular dementia -- 7.Less common forms of dementia -- 8.Younger people with dementia -- 9.People with learning[worldcat.org] disabilities, see the NICE guideline on mental health problems in people with learning disabilities.[nice.org.uk]

    Missing: Persistent Notochordal Canal
  • Oculopalatoskeletal Syndrome

    optic discs, tortuous retinal vessels, posterior embryotoxon Walker-Warburg syndrome (236670) Multiple ocular findings including retinal detachment, cataracts, microphthalmia[clinicalgate.com] Definition A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal[uniprot.org] disability, and genital, limb and vesicorenal anomalies.[genecards.org]

    Missing: Persistent Notochordal Canal
  • CHARGE Syndrome

    Fundus examination of both eyes showed large chorioretinal colobomas involving the optic disc and posterior pole.[ncbi.nlm.nih.gov] A large proportion of children with CHARGE syndrome have some degree of learning disability but this can be variable.[gosh.nhs.uk] Delayed speech and language are common due to a combination of causes such as hearing impairment, learning disability, cleft lip and palate or oral motor dysfunction.[mun-h-center.se]

    Missing: Persistent Notochordal Canal
  • Isolated optic nerve hypoplasia

    An overgrowth of retinal pigment epithelium surrounding the small optic disc gives rise to the “double ring sign”.[pediatricneurologybriefs.com] Some affected children have normal intelligence and others have learning disabilities and intellectual disability. Autism is frequently diagnosed in children with ONH.[rarediseases.org] ONH is a nonprogressive congenital disc anomaly characterized by a small optic disc with a double-ring sign.[e-tjo.org]

    Missing: Persistent Notochordal Canal
  • Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

    Fundal examination revealed chorioretinal folds with an unusual appearance at the macula with optic disc crowding (Figs 1, 2, 3, 4, 5 ).[bjo.bmj.com] Learning disability, autism, cerebral palsy, and intellectual developmental delays can occur with ONH and SOD.[tsbvi.edu] notochordal canal syndrome 4 Cases 794 Saethre-Chotzen syndrome 3.0 BP * 300493 Sagliker syndrome 60 Cases 140969 Saldino-Mainzer syndrome 10 Cases 370938 Salt-and-pepper[azkurs.org]

  • Septo-Optic Dysplasia

    A case of septo-optic dysplasia was proved by demonstrating the absence of septum pellucidum, small optic discs and hypothalamic-pituitary dysfunction at the age of three[ncbi.nlm.nih.gov] The fetus was complicated with cleft schizencephaly involving bilateral frontal, parietal and occipital lobes, which can often lead to learning disability, epilepsy and cerebral[ncbi.nlm.nih.gov] Ophthalmoscopic examination showed a small pale optic disc in the right eye; the optic disc of the left eye was normal.[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Incontinentia Pigmenti Achromians

    The dilated fundus examination showed a small optic disc with an anomalous vascular pattern, a poor macular reflex, and a prominent loss of the retinal pigment epithelium[healio.com] , including autism spectrum and learning disability Mouth or tooth problems Ultraviolet light ( Wood lamp ) examination of the skin lesions may help confirm the diagnosis.[nlm.nih.gov] These include: neurological problems: - learning difficulties (see entry Learning Disability ) - seizures - hemimegalencephaly (enlarged brain on one side) visual problems[contact.org.uk]

    Missing: Persistent Notochordal Canal

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