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MCID: CRB141
MIFTS: 19
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Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4
Categories:
Genetic diseases, Neuronal diseases, Mental diseases, Rare diseases
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MalaCards integrated aliases for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth one family has been reported (last curated june 2013) HPO:32
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4:
Inheritance autosomal recessive inheritance Onset and clinical course congenital onset 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). (615268)
MalaCards based summary : Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4, also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4, is related to cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1, and has symptoms including ataxia, truncal An important gene associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 is ATP8A2 (ATPase Phospholipid Transporting 8A2). Related phenotypes are intellectual disability and dysarthria UniProtKB/Swiss-Prot : 75 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4: A congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mental retardation. |
Diseases in the Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 family:
Diseases related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615268Human phenotypes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4:32 (show all 7)
UMLS symptoms related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4:ataxia, truncal |
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Genes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4:75
ClinVar genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4:6
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Search
GEO
for disease gene expression data for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4.
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