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199 Possible Causes for Cerebellar Hypoplasia, Pendular Nystagmus, Psychomotor Retardation

  • Dysequilibrium Syndrome

    From Wikipedia, the free encyclopedia Jump to navigation Jump to search VLDLR-associated cerebellar hypoplasia Other names Dysequilibrium syndrome, DES ; Nonprogressive cerebellar[en.wikipedia.org] Clinical features include cerebellar ataxia with wide-based gait, psychomotor retardation, intention tremor, and dysarthria.[ncbi.nlm.nih.gov] An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification[ncbi.nlm.nih.gov]

  • Dandy-Walker Syndrome

    hypoplasia, hydrocephalus, and posterior fossa cyst formation.[medical-dictionary.thefreedictionary.com] Neurological examination was unremarkable without cerebellar ataxia or psychomotor retardation .the patient was submitted to CT scan and magnetic resonance imaging (MRI) of[panafrican-med-journal.com] Her occipital tumor was removed, and now, she is growing normally in body size, but does not react to the visual stimuli with considerable psychomotor retardation.[webview.isho.jp]

  • Pelizaeus-Merzbacher Disease

    Magnetic search-coil oculography of three brothers with clinically diagnosed Pelizaeus-Merzbacher disease disclosed the presence of binocular elliptical pendular nystagmus[ncbi.nlm.nih.gov] Hypoplasia (LCH), Polymicrogyria (PMG), Schizencephaly (SCH), Muscle-Eye-Brain (MEB) Disease, and Walker-Warburg syndrome (WWS), 17p13.3 deletion] Liver conditions (biliary[kumc.edu] Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with severe psychomotor retardation and neurological symptoms due to an inborn abnormality of proteolipid[ncbi.nlm.nih.gov]

  • Congenital Non-Progressive Ataxia

    nystagmus and reduced vision.[entokey.com] Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia.[ncbi.nlm.nih.gov] retardation).[rarediseases.org]

  • Cerebellar Ataxia Type Cayman

    Nystagmus MedGen UID: 45166 • Concept ID: C0028738 • Disease or Syndrome Involuntary movements of the eye that are divided into two types, jerk and pendular.[ncbi.nlm.nih.gov] […] hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia Cayman cerebellar[wikidata.org] Cayman type cerebellar ataxia Search Ontology: Synonyms: Cayman cerebellar ataxia Definition: A cerebellar ataxia characterized by marked autosomal recessie inheritance, psychomotor[zfin.org]

  • Hereditary Nystagmus

    Nystagmus may also be pendular or, when vision is very poor, of a searching type.[medical-dictionary.thefreedictionary.com] Differential diagnosis for the causes of pathological nystagmus [3] includes: In young kittens Cerebellar hypoplasia/atrophy Wobbly kitten syndrome Chediak-Higashi syndrome[vetbook.org] Three groups of patients with INS were individualized: group 1 (n 34) - neurologic nystagmus (associated with neurological context: fetal suffering, psychomotor retardation[iovs.arvojournals.org]

  • Alcoholic Cerebellar Degeneration

    […] parallels peak BAC Stage of development not an important factor Cerebellar Hypoplasia 14.[slideshare.net] Niemann-Pick disease type C (NPC): This autosomal recessive disorder is almost invariably characterized by two major features: psychomotor retardation and supranuclear downgaze[neuroweb.us] Inherited metabolic disorders - eg, Leigh's disease and the mitochondrial disorders Congenital: Developmental anomalies - eg, cerebellar hypoplasia, Dandy-Walker syndrome,[patient.info]

  • Acute Cerebellar Ataxia

    Nystagmus, skew deviation, disconjugate saccades, and altered ocular pursuit can be present.[ajnr.org] Inherited metabolic disorders - eg, Leigh's disease and the mitochondrial disorders Congenital: Developmental anomalies - eg, cerebellar hypoplasia, Dandy-Walker syndrome[patient.info] Niemann-Pick disease type C (NPC): This autosomal recessive disorder is almost invariably characterized by two major features: psychomotor retardation and supranuclear downgaze[neuroweb.us]

  • Baraitser-Winter Syndrome 1

    Pendular and horizontal nystagmus, head turn, strabismus AD, AR, X-linked Numerous Multiple CONGENITAL STATIONARY NIGHT BLINDNESS Night blindness, myopia AD, AR, X-linked[eyewiki.aao.org] TUBA8 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis PI4KA Popliteal pterygium syndrome type 1 IRF6 Popliteal pterygium syndrome, lethal type[centogene.com] The overall risk of psychomotor retardation is high, but 34 of our 113 patients had an IQ greater than 70.[jamanetwork.com]

  • Subacute Cerebellar Degeneration

    Nystagmus, skew deviation, disconjugate saccades, and altered ocular pursuit can be present.[ajnr.org] Diffuse cerebellar atrophy can be difficult to distinguish from global cerebellar hypoplasia on a single study and can only be distinguished from the latter by demonstrating[radiopaedia.org] Niemann-Pick disease type C (NPC): This autosomal recessive disorder is almost invariably characterized by two major features: psychomotor retardation and supranuclear downgaze[neuroweb.us]

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