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29 Possible Causes for Cerebellar Ataxia, Thenar Eminence Hypoplasia

  • Strabismus

    thenar eminence to absent forearm. 76, 77 Hearing loss, dysmorphic facies, and cardiac, renal, and vertebral anomalies are variably expressed.[doi.org] Duane radial ray syndrome (OMIM: 607323) is dominant and incompletely penetrant, and affected individuals can have DRS and/or radial dysplasia ranging from hypoplasia of the[doi.org]

  • Autosomal Dominant Mental Retardation Type 21

    SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as infantile-onset spinocerebellar ataxia-psychomotor delay syndrome cerebellar ataxia, autosomal recessive[mendelian.co] The radial defects range from thenar eminence hypoplasia to radial absence.[oandplibrary.org] The ataxia was first described in a large French family with slowly progressive cerebellar ataxia, mental retardation, and severe cognitive impairment in two young children[pediatricneurologybriefs.com]

  • Acrootoocular Syndrome

    ataxia type 1 [ ] Autosomal dominant cerebellar ataxia type 3 [ ] Autosomal dominant cerebellar ataxia type 4 [ ] Autosomal dominant cerebellar ataxia type I [ ] Autosomal[wikicure.wikia.com] Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.[orpha.net] Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1 Cerebellar Ataxia, Congenital,[ukgtn.nhs.uk]

  • Postaxial Oligodactyly, Tetramelic

    […] agenesis * Cerebellar ataxia * Cerebellar ataxia ectodermal dysplasia * Cerebellar ataxia infantile with progressive external ophthalmoplegia * Cerebellar ataxia, areflexia[medicalgeek.com] The only ocular motility disorder with upper limb defects is the Duane-radial ray syndrome with radial ray abnormalities ranging from hypoplasia of the thenar eminence to[jmg.bmj.com] cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX[se-atlas.de]

  • Oculootoradial Syndrome

    […] recessive cerebellar ataxia due to GBA2 deficiency Autosomal recessive cerebellar ataxia type 1 Autosomal recessive cerebellar ataxia type 2 Autosomal recessive cerebellar[csbg.cnb.csic.es] 0008953 Short 1st metacarpal Shortened 1st long bone of hand 0010034 Small thenar eminence 0001245 Showing of 31 Last updated: 6/1/2019 Making a diagnosis for a genetic or[rarediseases.info.nih.gov] 0008953 Short 1st metacarpal Shortened 1st long bone of hand 0010034 Small thenar eminence 0001245 Showing of 31 Last updated: 5/1/2019 Making a diagnosis for a genetic or[rarediseases.info.nih.gov]

  • Tel Hashomer Camptodactyly Syndrome

    ataxia, mental retardation and dysequlibrium syndrome Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome Cerebellofaciodental[rgd.mcw.edu] She had facial asymmetry, ocular hypertelorism, small mouth, poor muscular development, poor lower leg muscle development, and hypoplasia of the thenar and hypothenar eminences[cags.org.ae] Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome Catel Manzke Syndrome Cauda equina syndrome Cayler Cardiofacial Syndrome CEDNIK syndrome Central Cord Syndrome cerebellar[rgd.mcw.edu]

  • Lenz-Majewski Syndrome

    ataxia and intellectual disability syndrome.[iarc.fr] […] of the thenar and hypothenar eminences (Learman et al. 1981).[rrnursingschool.biz] ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.[mendelian.co]

  • Proximal Symphalangism

    cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX[se-atlas.de] […] of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern).[rarediseases.oscar.ncsu.edu] […] of the thenar and hypothenar eminences and a distinctive dermatoglyphic pattern).[ncbi.nlm.nih.gov]

  • Congenital Deformities of Limbs

    cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX[se-atlas.de] The radial defects range from thenar eminence hypoplasia to radial absence.[oandplibrary.org] ataxia-epilepsy-intellectual disability syndrome Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Autosomal recessive[se-atlas.de]

  • Distal Symphalangism

    A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay.[nectarmutation.org] […] of the thenar and hypothenar eminences (Learman et al. 1981).[rrnursingschool.biz] Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular[nectarmutation.org]

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