Spinocerebellar Ataxia, Autosomal Recessive 2

Alternative Names

  • SCAR2
  • Cerebelloparenchymal Disorder III
  • CPD III
  • CPD3
  • Cerebellar Hypoplasia, Nonprogressive Norman Type
  • Cerebellar Granular Cell Hypoplasia and Mental Retardation, Congenital
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WHO-ICD-10 version:2010

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

OMIM Number

213200

Mode of Inheritance

Autosomal recessive

Gene Map Locus

9q34.3

Description

Autosomal Recessive Spinocerebellar Ataxia 2 (SCAR2) is a neurological disorder characterised by congenital nonprogressive ataxia, delay in language acquisition, persistent dysarthria, strabismus, nystagmus, hypotonia, and mental retardation.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
213200.1.01LebanonFemaleYesYes Intellectual disability ; Delayed spe...NM_015160.3:c.1129G>AHomozygousAutosomal, RecessiveMegarbane et al. 1999; Delague et al. 2001; Jobling et al, 2015
213200.1.02LebanonMaleYesYes Intellectual disability ; Delayed sp...NM_015160.3:c.1129G>AHomozygousAutosomal, RecessiveJobling et al, 2015 Brother of 213200.1....
213200.1.03LebanonMaleYesYes Intellectual disability ; Delayed spe...NM_015160.3:c.1129G>AHomozygousAutosomal, RecessiveJobling et al, 2015 Cousin of 213200.1...
213200.1.04LebanonMaleYesYes Intellectual disability ; Delayed sp...NM_015160.3:c.1129G>AHomozygousAutosomal, RecessiveJobling et al, 2015 Cousin of 213200.1.0...
213200.1.05LebanonMaleYesYes Intellectual disability ; Delayed s...NM_015160.3:c.1129G>AHomozygousAutosomal, RecessiveJobling et al, 2015 Cousin of 213200.1.0...
213200.1.06LebanonFemaleYesYes Intellectual disability ; Delayed s...NM_015160.3:c.1129G>AHomozygousAutosomal, RecessiveJobling et al, 2015 Cousin of 213200.1.0...
213200.1.07LebanonMaleYesYes Intellectual disability ; Delayed ...NM_015160.3:c.1129G>AHomozygousAutosomal, RecessiveJobling et al, 2015 Cousin of 213200.1.0...
213200.1.08LebanonMaleYesYes Intellectual disability ; Delayed spe...NM_015160.3:c.1129G>AHomozygousAutosomal, RecessiveJobling et al, 2015 Cousin of 213200.1.0...
213200.1.09LebanonMaleYesYes Intellectual disability ; Delayed spe...NM_015160.3:c.1129G>AHomozygousAutosomal, RecessiveJobling et al, 2015 Cousin of 213200.1.0...
213200.1.10LebanonMaleYesYes Intellectual disability ; Delayed sp...NM_015160.3:c.1129G>AHomozygousAutosomal, RecessiveJobling et al, 2015 Cousin of 213200.1.0...
213200.1.11LebanonMaleYesYes Intellectual disability ; Delayed s...NM_015160.3:c.1129G>AHomozygousAutosomal, RecessiveJobling et al, 2015 Cousin of 213200.1.0...
213200.1.12LebanonMaleYesYes Intellectual disability ; Delayed spee...NM_015160.3:c.1129G>AHomozygousAutosomal, RecessiveJobling et al, 2015 Cousin of 213200.1.0...
213200.2.1LebanonMaleYesNo Dysarthria ; Dysmetria ; Gait ataxia ...NM_015160.3:c.1129G>AHomozygousAutosomal, RecessiveJobling et al, 2015
213200.2.2LebanonMaleYesNo Dysarthria ; Dysmetria ; Gait ataxi...NM_015160.3:c.1129G>AHomozygousAutosomal, RecessiveJobling et al, 2015 Brother of 213200.2....
213200.3.1LebanonFemaleYesYes Intellectual disability ; Delayed ...NM_015160.3:c.1129G>AHomozygousAutosomal, RecessiveJobling et al, 2015
213200.3.2LebanonFemaleYesYes Intellectual disability ; Delayed spee...NM_015160.3:c.1129G>AHomozygousAutosomal, RecessiveJobling et al, 2015 Sister of 213200.3.1
213200.4.1LebanonFemaleYesNo Neurodevelopmental delay; Failure to th...NM_015160.3:c.1129G>A, NM_015160.3:c.1066G>AHeterozygousAutosomal, RecessiveJoshi et al. 2016
213200.4.2LebanonMaleYesNo Neurodevelopmental delay; Failure to t...NM_015160.3:c.1129G>A, NM_015160.3:c.1066G>AHeterozygousAutosomal, RecessiveJoshi et al. 2016 First cousin of 2132...
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