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IDDPADS
MCID: INT392
MIFTS: 15
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Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures (IDDPADS)
Categories:
Genetic diseases
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Aliases & Classifications for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or...
MalaCards integrated aliases for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures:
Name: Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures
57
6
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
variable phenotype slowly progressive onset in early childhood dystonic episodes occur multiple times a day episodes may be triggered by stress or stimuli Classifications: |
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OMIM® :
57
Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS) is an autosomal recessive complex neurologic disorder characterized by global developmental delay with impaired intellectual development and language delay. In addition, most patients develop a paroxysmal hyperkinetic movement disorder in the first months or years of life manifest as sudden falls or backward propulsion, eye or head deviation, and dystonic limb posturing followed by chorea and dyskinetic movements. The episodes are pharmacoresistant to anticonvulsant medication. EEG may show interictal abnormalities, but are usually not consistent with epilepsy. However, some patients may also develop epileptic seizures or only have seizures without a movement disorder (summary by Doummar et al., 2020). (619150) (Updated 05-Mar-2021)
MalaCards based summary : Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures, is also known as iddpads. An important gene associated with Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures is PDE2A (Phosphodiesterase 2A). Affiliated tissues include eye. |
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Symptoms & Phenotypes for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or...
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:619150 (Updated 05-Mar-2021) |
Drugs & Therapeutics for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or...
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MalaCards organs/tissues related to Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures:40
Eye
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Articles related to Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures:
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Genes related to Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures:6
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Search
GEO
for disease gene expression data for Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures.
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