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6,106 Possible Causes for Caused by Mutation in the CWF19-Like Protein 1 Gene, Non-Progressive

  • Autosomal Recessive Spinocerebellar Ataxia Type 17

    SCAR17 features include non-progressive congenital cerebellar ataxia, mildly delayed walking with an unsteady gait and frequent falls, dysarthria, dysmetria, hypotonia in[malacards.org] A syndrome of pure cerebellar hypoplasia with non-progressive cerebellar ataxia has also been described. How to differentiate congenital ataxias from hereditary ataxias?[jpgmonline.com] SCA27 Cognitive impairment FGF14 Fibroblast growth factor 14 SCA28 Ophthalmoparesis and ptosis AFG3L2 Catalytic subunit of the mitochondrial AAA protease SCA29 Early onset, non-progressive[e-jmd.org]

  • Benign Adult Familial Myoclonic Epilepsy

    It is distinct from progressive myoclonic epilepsy in its adult onset and non-progressive course.[jstage.jst.go.jp] FCMTE1), is a hereditary epileptic syndrome characterized by autosomal dominant inheritance, adult-onset tremulous hand movement, myoclonus, infrequent epileptic seizure and non-progressive[ncbi.nlm.nih.gov] AB - Benign Adult Familial Myoclonic Epilepsy is an AD syndrome characterized from a non progressive cortical tremor resembling essential tremor, myoclonus and rare GTCS,[moh-it.pure.elsevier.com]

    Missing: Caused by Mutation in the CWF19-Like Protein 1 Gene
  • Autosomal Recessive Deafness 42

    UniProtKB/Swiss-Prot : 76 Deafness, autosomal recessive, 42: A prelingual, non-progressive form of non-syndromic sensorineural hearing loss.[malacards.org] 2, 3 : Congenital non-progressive sensorineural deafness or deficiency that is mild (26-40 dB) to profound (90 dB) Absence of systemic findings identified by clinical/physical[centogene.com] Pure tone audiometry confirmed the presence of non-progressive profound sensorineural hearing loss (fig 1).[jmg.bmj.com]

    Missing: Caused by Mutation in the CWF19-Like Protein 1 Gene
  • Dysequilibrium Syndrome

    Dysequilibrium syndrome (DES) is a non-progressive congenital ataxia characterized by severe intellectual deficit, truncal ataxia and markedly delayed, quadrupedal or absent[ncbi.nlm.nih.gov] RESULTS: Five patients had non-progressive cerebellar ataxia (NPCA), dysarthria and short stature.[ncbi.nlm.nih.gov] Introduction Dysequilibrium syndrome (DES, OMIM 224050) is a rare autosomal recessive non-progressive cerebellar disorder characterized by ataxia, mental retardation, cerebellar[doi.org]

    Missing: Caused by Mutation in the CWF19-Like Protein 1 Gene
  • Autosomal Recessive Spinocerebellar Ataxia

    Genome-wide homozygosity mapping localises a gene for autosomal recessive non-progressive infantile ataxia to 20q11–q13. Hum Genet 2003 ; 113 : 293 –5.[jmg.bmj.com] Congenital ataxias display symptoms within the first year of life and are often non-progressive, while the late onset ataxias are more commonly progressive and result in patients[centogene.com] A syndrome of pure cerebellar hypoplasia with non-progressive cerebellar ataxia has also been described. How to differentiate congenital ataxias from hereditary ataxias?[jpgmonline.com]

    Missing: Caused by Mutation in the CWF19-Like Protein 1 Gene
  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    Dominantly inherited early-onset non-progressive cerebellar ataxia syndrome. Brain Dev 1993 ; 15 : 372 –6. Harding AE .[jmg.bmj.com] Spastic diplegic cerebral palsy If HSP symptoms begin to start in very early childhood, they may be non-progressive and resemble spastic diplegic cerebral palsy.Spasticity[explainmedicine.com] The neurologic signs usually develop as slowly progressive or non-progressive ataxia in the third decade of life. 4 Other disorders in which cerebellar ataxia is associated[synapse.koreamed.org]

    Missing: Caused by Mutation in the CWF19-Like Protein 1 Gene
  • X-Linked Spinocerebellar Ataxia Type 5

    Dominantly inherited early-onset non-progressive cerebellar ataxia syndrome. Brain Dev 1993 ; 15 : 372 –6. Harding AE .[jmg.bmj.com] Switzerland) Cerebellar agenesis Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Cerebellar hypoplasias Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Non-progressive[deutscher-apotheker-verlag.de] Immunodeficiency is non progressive.[1]. Thymic dysplasia Absence or dysplasia of thymus gland is found in some patients.[3].[explainmedicine.com]

    Missing: Caused by Mutation in the CWF19-Like Protein 1 Gene
  • Central Core Disease

    The congenital myopathy was non-progressive, but the scoliotic curve worsened markedly.[ncbi.nlm.nih.gov] Register A NEW CONGENITAL NON-PROGRESSIVE MYOPATHY - 24 Hours access EUR 36.00 GBP 28.00 USD 45.00 Rental This article is also available for rental through DeepDyve.[doi.org] Central core disease (CCD) is a well recognized, relatively mild, non- or slowly progressive, dominantly inherited, congenital myopathy due, at least in some families, to[ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the CWF19-Like Protein 1 Gene
  • Glycogen Storage Disease Type 4

    In rare cases individuals may have a form with non-progressive liver disease, or a severe neuromuscular form.[diseaseinfosearch.org] Mutations in the GBE gene have also been identified in patients with the milder non-progressive hepatic form of the disease.[ingentaconnect.com] The non-progressive hepatic type of GSD IV has many of the same features as the progressive hepatic type, but the liver disease is not as severe.[ghr.nlm.nih.gov]

    Missing: Caused by Mutation in the CWF19-Like Protein 1 Gene
  • Arthrogryposis Multiplex Congenita

    Arthrogryposis multiplex congenita (AMC) is an uncommon congenital disorder characterized by multiple fixed joint deformities and non-progressive neuromuscular dysfunction[ncbi.nlm.nih.gov] Fetal arthrogryposis multiplex congenita (AMC) is characterised by non-progressive multiple joint contractures, which may result in fetal death, and is heterogeneous in origin[ncbi.nlm.nih.gov] Abstract Arthrogryposis multiplex congenita (AMC) is a rare disorder characterized by non-progressive, multiple contractures.[ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the CWF19-Like Protein 1 Gene

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