MRD40
MCID: MNT242
MIFTS: 23
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Mental Retardation, Autosomal Dominant 40 (MRD40)
Categories:
Bone diseases, Cardiovascular diseases, 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 40:
Characteristics:HPO:32
mental retardation, autosomal dominant 40:
Inheritance autosomal dominant inheritance Onset and clinical course congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases Anatomical: Mental diseases Neuronal diseases Eye diseases Cardiovascular diseases Bone diseases Skin diseases Gastrointestinal diseases Ear diseases |
UniProtKB/Swiss-Prot
:
74
Mental retardation, autosomal dominant 40: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
MalaCards based summary : Mental Retardation, Autosomal Dominant 40, is also known as mrd40. An important gene associated with Mental Retardation, Autosomal Dominant 40 is CHAMP1 (Chromosome Alignment Maintaining Phosphoprotein 1). Related phenotypes are microcephaly and low-set ears Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene (616327) on chromosome 13q34. |
Human phenotypes related to Mental Retardation, Autosomal Dominant 40:32 (show all 25)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616579 |
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Articles related to Mental Retardation, Autosomal Dominant 40:
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ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 40:6
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Search
GEO
for disease gene expression data for Mental Retardation, Autosomal Dominant 40.
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