MRD46
MCID: MNT278
MIFTS: 21
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Mental Retardation, Autosomal Dominant 46 (MRD46)
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 46:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
variable severity de novo mutation four unrelated patients have been reported (last curated august 2017) HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases Anatomical: Mental diseases Neuronal diseases Eye diseases Bone diseases Cardiovascular diseases Skin diseases Ear diseases Gastrointestinal diseases |
UniProtKB/Swiss-Prot
:
75
Mental retardation, autosomal dominant 46: 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. MRD46 patients manifest developmental delay and mild to moderate intellectual disability.
MalaCards based summary : Mental Retardation, Autosomal Dominant 46, is also known as mrd46. An important gene associated with Mental Retardation, Autosomal Dominant 46 is KCNQ5 (Potassium Voltage-Gated Channel Subfamily Q Member 5). Affiliated tissues include skin, bone and eye, and related phenotypes are intellectual disability and seizures
Description from OMIM:
617601
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617601Human phenotypes related to Mental Retardation, Autosomal Dominant 46:32 (show all 6)
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MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 46:41
Skin,
Bone,
Eye
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UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 46:75
ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 46:6
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Search
GEO
for disease gene expression data for Mental Retardation, Autosomal Dominant 46.
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