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CAMRQ2
MCID: CRB136
MIFTS: 22
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Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 (CAMRQ2)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:
Characteristics:HPO:33
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2:
Onset and clinical course infantile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases |
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UniProtKB/Swiss-Prot
:
76
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2: A congenital cerebellar ataxia associated with cerebellar hypoplasia, mental retardation, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum.
MalaCards based summary : Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2, also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2, is related to cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1, and has symptoms including tremor, dysdiadochokinesis and cerebellar ataxia. An important gene associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 is WDR81 (WD Repeat Domain 81). Affiliated tissues include brain, and related phenotypes are dysarthria and tremor OMIM : 58 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). (610185) |
Diseases in the Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 family:
Diseases related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:33 (show all 26)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:610185UMLS symptoms related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:tremor, dysdiadochokinesis, cerebellar ataxia |
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MalaCards organs/tissues related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:42
Brain
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Genes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 (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 2:76
ClinVar genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:6
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Search
GEO
for disease gene expression data for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2.
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