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1,495 Possible Causes for Abnormal Eye Movement, Periumbilical Depression

  • Oculopalatoskeletal Syndrome

    Syndrome (OMIM Number) Ophthalmologic Abnormality Aicardi–Goutières syndrome (225750) Visual inattention, abnormal eye movements Allan–Herndon–Dudley syndrome (300523) Rotary[clinicalgate.com] movements; rare disorder Pyruvate decarboxylase deficiency (312170) Episodic ptosis, abnormal eye movements Pyruvate dehydrogenase deficiency (312170) Nystagmus, ptosis,[clinicalgate.com] […] paroxysmal eye movements; eye findings rare Holoprosencephaly (236100) Cyclopia, ethmocephaly, cebocephaly, hypotelorism Incontinentia pigmenti (308300) Microphthalmia, cataract[clinicalgate.com]

  • Ependymoma Grade 3

    Li-Fraumeni syndrome is a genetic disease that is caused by mutation of the tumor suppressor gene TP53. Patients with this syndrome may develop multiple malignant neoplasms including brain tumors. We herein report the first case of Li-Fraumeni syndrome in which development of supratentorial anaplastic ependymoma[…][ncbi.nlm.nih.gov]

    Missing: Periumbilical Depression
  • Huntington's Disease

    Abnormal eye movements may be seen early in the disease. Other movement disorders, such as tics and myoclonus, may be seen in patients with HD.[emedicine.medscape.com] , rigidity, abnormal eye movements, problems with balance and coordination Slurred and/or slowed speech or difficulty swallowing Slowed thinking and reaction time, difficulty[health.ucsd.edu] Dysarthria, dysphagia and abnormal eye movements are common. There may also be other movement disorders - eg, tics and myoclonus.[patient.info]

    Missing: Periumbilical Depression
  • Machado-Joseph Disease

    This patient had a 4-year medical history mainly presenting severe ataxia, abnormal eye movement and pyramidal signs.[ncbi.nlm.nih.gov] , abnormal postures, and rigidity) or symptoms similar to those of Parkinson's disease.[peninsulamedical.moneomed.com] Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I. Ann Neurol 1998 ; 43 : 297 –302. Bürk K , Abele M, Fetter M, et al.[jnnp.bmj.com]

    Missing: Periumbilical Depression
  • Ataxia Telangiectasia

    Poor accommodation and abnormal eye movements may lead to reading difficulty reported by patients with A-T.[ncbi.nlm.nih.gov] Onset usually occurs between 1 and 2 years of age with abnormal head movements and loss of balance, followed by slurred speech and abnormal eye movements.[orpha.net] Ocular motor abnormalities, especially strabismus, are a common finding in A-T.[ncbi.nlm.nih.gov]

    Missing: Periumbilical Depression
  • Ependymoma Grade 1

    Subcutaneous sacrococcygeal myxopapillary ependymoma (SSME) is a very rare neurologic tumor with no demonstrable connection to the spinal column. Little is known of its etiology, clinical characteristics, or cytogenetics. Giemsa-band analysis revealed a stemline karyotype showing 62 chromosomes. Sidelines within the[…][ncbi.nlm.nih.gov]

    Missing: Periumbilical Depression
  • Spinocerebellar Ataxia Type 12

    eye movements, anxiety, depression, and sometimes cognitive impairment.[ncbi.nlm.nih.gov] , abnormal eye movements and, in the oldest subjects, dementia.[nature.com] One patient displayed a slight truncal tremor on standing, but no other adventitious movements were evident. Eye movements were abnormal in all six affected individuals.[jnnp.bmj.com]

    Missing: Periumbilical Depression
  • Spinocerebellar Ataxia Type 1

    Schmahmann, Eye Movement Abnormalities Are Ubiquitous in the Spinocerebellar Ataxias, The Cerebellum, 10.1007/s12311-019-01044-2, (2019).[doi.org] In addition to ataxia, an abnormal eye movement known as nystagmus may appear on the neurological examination.[verywell.com] This form of hereditary cerebellar ataxia was clinically distinct from that described by Friedreich and was characterized by adult onset, abnormal eye movements, increased[scielo.br]

    Missing: Periumbilical Depression
  • Spinocerebellar Ataxia Type 14

    One patient displayed a slight truncal tremor on standing, but no other adventitious movements were evident. Eye movements were abnormal in all six affected individuals.[jnnp.bmj.com] movement abnormalities with a very slow disease progression, and has material basis in mutation in the SPTBN2 gene.[informatics.jax.org] Egan RA, Camicioli R, Popovich BW: A small 55-repeat MJD1 CAG allele in a patient with Machado-Joseph disease and abnormal eye movements. Eur Neurol 2000; 44: 189-190.[scabase.eu]

    Missing: Periumbilical Depression
  • Spinocerebellar Ataxia Type 10

    In addition to ataxia, an abnormal eye movement known as nystagmus may appear on the neurological examination.[verywell.com] Egan RA, Camicioli R, Popovich BW: A small 55-repeat MJD1 CAG allele in a patient with Machado-Joseph disease and abnormal eye movements. Eur Neurol 2000; 44: 189-190.[scabase.eu] There is a broad-based gait, scanning dysarthria, explosive speech, intention tremor, dysdiadochokinesia, dysmetria and abnormalities of eye movements.[patient.info]

    Missing: Periumbilical Depression

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