Create issue ticket

16 Possible Causes for Caused by Mutation in the Very Low Density Lipoprotein Receptor Gene, Cerebellar Hypoplasia

  • Dysequilibrium Syndrome

    S Türkmen, K Hoffmann, Osman Demirhan, Defne Aruoba, N Humphrey and S Mundlos, Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density[doi.org] 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] Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.[ncbi.nlm.nih.gov]

  • X-Linked Spinocerebellar Ataxia Type 5

    Mutation of the very low-density lipoprotein receptor gene, which functions within the Reelin pathway (together with RELN, ApoER2, and DAB1 ) is the cause of an autosomal[ajnr.org] This is the first example of the genetic mapping of a pure congenital cerebellar hypoplasia syndrome.[ncbi.nlm.nih.gov] hypoplasia Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Pontine tegmental cap dysplasia Andrea Poretti (Zurich, Switzerland) Non-progressive cerebellar ataxia[deutscher-apotheker-verlag.de]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    Mutation of the very low-density lipoprotein receptor gene, which functions within the Reelin pathway (together with RELN, ApoER2, and DAB1 ) is the cause of an autosomal[ajnr.org] SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2, Cerebellar Granular Cell Hypoplasia and Mental Retardation, Congenital, Cpd 3 Annotation Sufficiency: ?[monarchinitiative.org] Congenital ataxias are due to cerebellar hypoplasia or aplasia.[jpgmonline.com]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    Mutation of the very low-density lipoprotein receptor gene, which functions within the Reelin pathway (together with RELN, ApoER2, and DAB1 ) is the cause of an autosomal[ajnr.org] […] ataxia, nonprogressive, with mental retardation Cerebellar ataxia, SNX14 related Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion Cerebral[qlinics.com] hypoplasia Lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type C Lissencephaly with[se-atlas.de]

  • Autosomal Recessive Spinocerebellar Ataxia 18

    Mutation of the very low-density lipoprotein receptor gene, which functions within the Reelin pathway (together with RELN, ApoER2, and DAB1 ) is the cause of an autosomal[ajnr.org] 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] The patients that we describe seem to have progressive cerebellar atrophy rather than malformative cerebellar hypoplasia.[ojrd.biomedcentral.com]

  • Early-Onset Cerebellar Ataxia

    Mutation of the very low-density lipoprotein receptor gene, which functions within the Reelin pathway (together with RELN, ApoER2, and DAB1 ) is the cause of an autosomal[ajnr.org] Abs R, Van Vleymen E, Parizel PM, Van Acker K, Martin M, Martin JJ (1990) Congenital cerebellar hypoplasia and hypogonadotropic hypogonadism.[link.springer.com] hypoplasia and quadrupedal locomotion in a consanguineous kindred.[genome.jp]

  • Cerebellar Ataxia

    Mutation of the very low-density lipoprotein receptor gene, which functions within the Reelin pathway (together with RELN, ApoER2, and DAB1 ) is the cause of an autosomal[ajnr.org] , hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.[orpha.net] […] hypotonia, mental retardation, and cerebellar dysfunction with marked cerebellar hypoplasia.[genome.jp]

  • Cerebellar Hypoplasia and Atrophy

    Turkmen S, Hoffmann K, Demirhan O: Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.[karger.com] […] such as cerebellar hypoplasia and atrophy.[ncbi.nlm.nih.gov] The term "amyotrophic cerebellar hypoplasia" (ACH) is a convenient designation for the syndrome.[ncbi.nlm.nih.gov]

  • Hereditary Cerebellar Degeneration

    Mutation of the very low-density lipoprotein receptor gene, which functions within the Reelin pathway (together with RELN, ApoER2, and DAB1 ) is the cause of an autosomal[ajnr.org] hypoplasia and distinctive facial appearance XL 28 42 PAX6 Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome), Keratitis, Coloboma, ocular, Cataract[blueprintgenetics.com] Localized cerebellar hypoplasia. Fetal coronal T2 image ( A ) shows a left-sided cerebellar hematoma ( arrow ).[ajnr.org]

  • Cerebellar Ataxia Type Cayman

    Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.[scielo.br] […] hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia Cayman cerebellar[wikidata.org] […] hypotonia, mental retardation, and cerebellar dysfunction with marked cerebellar hypoplasia.[genome.jp]

Further symptoms

Similar symptoms