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IDPOGSA
MCID: INT376
MIFTS: 17
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Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia (IDPOGSA)
Categories:
Genetic diseases
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Aliases & Classifications for Intellectual Developmental Disorder with Poor Growth and with or...
MalaCards integrated aliases for Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia:
Name: Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia
56
6
Characteristics:HPO:31
intellectual developmental disorder with poor growth and with or without seizures or ataxia:
Inheritance autosomal recessive inheritance Classifications: |
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OMIM :
56
Intellectual developmental disorder with poor growth and with or without seizures or ataxia (IDPOGSA) is an autosomal recessive neurologic disorder characterized by global developmental delay apparent from infancy, hypotonia, and poor overall growth, sometimes with borderline microcephaly. The phenotype is highly variable: some patients may show ataxia and some may have seizures (summary by Hu et al., 2019). (618808)
MalaCards based summary : Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia, is also known as idpogsa. An important gene associated with Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia is ABCA2 (ATP Binding Cassette Subfamily A Member 2). Affiliated tissues include eye, and related phenotypes are microcephaly and muscle weakness |
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Symptoms & Phenotypes for Intellectual Developmental Disorder with Poor Growth and with or...
Human phenotypes related to Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia:31 (show all 13)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618808 |
Drugs & Therapeutics for Intellectual Developmental Disorder with Poor Growth and with or...
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MalaCards organs/tissues related to Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia:40
Eye
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Articles related to Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia:
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Genes related to Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia:6
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Search
GEO
for disease gene expression data for Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia.
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