Create issue ticket

1,858 Possible Causes for Cerebellar Hypoplasia, Non-Communicating Isolated Syringomyelia, Quadrupedal Gait

Did you mean: Cerebellar Hypoplasia, Non-Communicating, Isolated Syringomyelia, Quadrupedal Gait

  • Dysequilibrium Syndrome

    CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.[ncbi.nlm.nih.gov] 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] 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]

    Missing: Non-Communicating Isolated Syringomyelia
  • Arnold-Chiari Malformation Type 1

    hypoplasia without displacement of the cerebellum through the foramen magnum probably a variation of cerebellar hypoplasia Chiari V malformation absent cerebellum herniation[radiopaedia.org] Type IV is a form a cerebellar hypoplasia.[hon.ch] […] of the occipital lobe through the foramen magnum Chiari 0 malformation syrinx without cerebellar tonsillar or brain stem descent infrequently used and confusing term to be[radiopaedia.org]

    Missing: Quadrupedal Gait
  • X-Linked Spinocerebellar Ataxia Type 5

    gait.[psychology.wikia.com] This is the first example of the genetic mapping of a pure congenital cerebellar hypoplasia syndrome.[ncbi.nlm.nih.gov] Localized cerebellar hypoplasia. Fetal coronal T2 image ( A ) shows a left-sided cerebellar hematoma ( arrow ).[ajnr.org]

    Missing: Non-Communicating Isolated Syringomyelia
  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet. 2009;5, e1000487.[cerebellumandataxias.biomedcentral.com] Localized cerebellar hypoplasia. Fetal coronal T2 image ( A ) shows a left-sided cerebellar hematoma ( arrow ).[ajnr.org] […] ataxia, nonprogressive, with mental retardation Cerebellar ataxia, SNX14 related Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion Cerebral[qlinics.com]

    Missing: Non-Communicating Isolated Syringomyelia
  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet. 2009;5, e1000487.[link.springer.com] Related phenotypes are hyperreflexia and cerebellar hypoplasia[malacards.org] Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.[mendelian.co]

    Missing: Non-Communicating Isolated Syringomyelia
  • Spinocerebellar Ataxia Type 15

    CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS genetics. 2009;5(5):e1000487.[journals.plos.org] CONCLUSION: Autosomal dominant congenital nonprogressive cerebellar ataxia with or without cerebellar hypoplasia overlaps with the SCA15 locus on chromosome 3pter [2] .[wikigenes.org] Clinical features of developmental disability associated with cerebellar hypoplasia. Pediatr Neurol. 1996;15:224–9.[ojrd.biomedcentral.com]

    Missing: Non-Communicating Isolated Syringomyelia
  • Autosomal Recessive Spinocerebellar Ataxia 8

    gait.[psychology.wikia.com] QT SYNDROME 4 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED Ataxin-1 (N76/3, N76/8) SPINOCEREBELLAR ATAXIA 1 CASK (K56A/50) MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR[neuromab.ucdavis.edu] […] ataxia type 1 autosomal recessive cerebellar ataxia with mental retardation, see VLDLR-associated cerebellar hypoplasia autosomal recessive cerebellar hypoplasia with cerebral[mygenomics.com]

    Missing: Non-Communicating Isolated Syringomyelia
  • Hoyeraal-Hreidarsson Syndrome

    We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay.[ncbi.nlm.nih.gov] Hoyeraal-Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA), immunodeficiency, microcephaly, cerebellar-hypoplasia and[ncbi.nlm.nih.gov] Medical Genetics Original Paper Abstract We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental[link.springer.com]

    Missing: Non-Communicating Isolated Syringomyelia Quadrupedal Gait
  • Cerebellar Ataxia

    CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet. 2009;5:e1000487.[jneuroinflammation.com] Localized cerebellar hypoplasia. Fetal coronal T2 image ( A ) shows a left-sided cerebellar hematoma ( arrow ).[ajnr.org] , hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.[orpha.net]

    Missing: Non-Communicating Isolated Syringomyelia
  • Lissencephaly

    A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia.[ncbi.nlm.nih.gov] A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. Neuropediatrics 24, 43–46 ( 1993). 15 DeSilva, U. et al.[doi.org] Point mutations in the RELN gene have been shown to cause an autosomal recessive human brain malformation termed lissencephaly with cerebellar hypoplasia (LCH).[ncbi.nlm.nih.gov]

    Missing: Non-Communicating Isolated Syringomyelia Quadrupedal Gait

Similar symptoms