IDDECA
MCID: INT327
MIFTS: 20
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Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia (IDDECA)
Categories:
Genetic diseases
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Aliases & Classifications for Intellectual Developmental Disorder with or Without Epilepsy or...
MalaCards integrated aliases for Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
variable phenotype de novo mutation HPO:31
intellectual developmental disorder with or without epilepsy or cerebellar ataxia:
Inheritance autosomal dominant inheritance Classifications: |
UniProtKB/Swiss-Prot :
73
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia: An autosomal dominant neurodevelopmental disorder that manifests with variable features of mild-to-severe intellectual disability, developmental delay, autism spectrum disorder, cerebellar ataxia and epilepsy.
MalaCards based summary : Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia, is also known as iddeca. An important gene associated with Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia is RORA (RAR Related Orphan Receptor A). Related phenotypes are abnormal pyramidal sign and nystagmus
More information from OMIM:
618060
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Symptoms & Phenotypes for Intellectual Developmental Disorder with or Without Epilepsy or...
Human phenotypes related to Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia:31 (show all 25)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618060 (Updated 05-Mar-2021) |
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Articles related to Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia:
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ClinVar genetic disease variations for Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia:6 (show all 12)
UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia:73
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Search
GEO
for disease gene expression data for Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia.
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