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IDDSSBA
MCID: INT366
MIFTS: 15
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Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities (IDDSSBA)
Categories:
Genetic diseases
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MalaCards integrated aliases for Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities:
Name: Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities
56
12
73
6
17
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy seizure onset in early infancy (family b) two unrelated consanguineous families have been reported (last curated december 2019) Classifications:External Ids:
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UniProtKB/Swiss-Prot :
73
Intellectual developmental disorder with short stature and behavioral abnormalities: An autosomal recessive disorder with onset in infancy and characterized by intellectual disability, developmental delay, short stature, aphasia, and hypotonia. Additional features include seizures and behavioral abnormalities, such as inattention, hyperactivity and aggression.
MalaCards based summary : Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities, is also known as iddssba. An important gene associated with Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities is IQSEC1 (IQ Motif And Sec7 Domain ArfGEF 1). Disease Ontology : 12 A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has material basis in homozygous or compound heterozygous mutation in IQSEC1 on chromosome 3p25.2-p25.1.
More information from OMIM:
618687
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Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618687 |
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Articles related to Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities:(showing 1, show less)
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Genes related to Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities (1 elite genes):(showing 1, show less) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities:6 (showing 2, show less)
UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities:73 (showing 2, show less)
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Search
GEO
for disease gene expression data for Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities.
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