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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
57
72
6
Characteristics:OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy highly variable phenotype 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® :
57
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) (Updated 20-May-2021)
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). Related phenotypes are dysarthria and muscle weakness UniProtKB/Swiss-Prot : 72 Intellectual developmental disorder with poor growth and with or without seizures or ataxia: An autosomal recessive disorder characterized by global developmental delay apparent from infancy, impaired intellectual development, hypotonia, and poor overall growth with microcephaly. Additional variable features include dysmorphic features, cataracts, ataxia and seizures. |
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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®:57 (Updated 20-May-2021)Clinical features from OMIM®:618808 (Updated 20-May-2021) |
Drugs & Therapeutics for Intellectual Developmental Disorder with Poor Growth and with or...
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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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