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CAMRQ3
MCID: CRB195
MIFTS: 24
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Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 (CAMRQ3)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3:
Name: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3
57
71
Characteristics:Inheritance:
Autosomal recessive 57
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases |
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OMIM®: 57 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011). For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050). (613227) (Updated 08-Dec-2022) MalaCards based summary: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3, is also known as cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3, and has symptoms including tremor and cerebellar ataxia. An important gene associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 is CA8 (Carbonic Anhydrase 8). Affiliated tissues include cerebellum, brain and brain-cerebellum, and related phenotypes are ataxia and dysarthria UniProtKB/Swiss-Prot: 73 An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability. |
Diseases in the Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 family:
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Human phenotypes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3:30 (show all 6)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:613227 (Updated 08-Dec-2022)UMLS symptoms related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3:tremor; cerebellar ataxia |
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Organs/tissues related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3:
MalaCards :
Cerebellum,
Brain
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Articles related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3:(show all 12)
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Genes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3:5
UniProtKB/Swiss-Prot genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3:73
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Search
GEO
for disease gene expression data for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3.
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