MRD29
MCID: MNT222
MIFTS: 33
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Mental Retardation, Autosomal Dominant 29 (MRD29)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 29:
Characteristics:HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Mental diseases Neuronal diseases Eye diseases Skin diseases Gastrointestinal diseases Ear diseases |
UniProtKB/Swiss-Prot :
73
Mental retardation, autosomal dominant 29: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD29 patients manifest severe intellectual disability, behavioral difficulties, speech and motor delays, and dysmorphic facial features.
MalaCards based summary : Mental Retardation, Autosomal Dominant 29, also known as mrd29, is related to setbp1 disorder and mixed phenotype acute leukemia. An important gene associated with Mental Retardation, Autosomal Dominant 29 is SETBP1 (SET Binding Protein 1). Related phenotypes are seizure and intellectual disability Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SETBP1 on chromosome 18q12.3. |
Human phenotypes related to Mental Retardation, Autosomal Dominant 29:31 (show all 17)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616078GenomeRNAi Phenotypes related to Mental Retardation, Autosomal Dominant 29 according to GeneCards Suite gene sharing:26 (show all 18)
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Articles related to Mental Retardation, Autosomal Dominant 29:
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ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 29:6 (show all 12)
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Search
GEO
for disease gene expression data for Mental Retardation, Autosomal Dominant 29.
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Biological processes related to Mental Retardation, Autosomal Dominant 29 according to GeneCards Suite gene sharing:
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