MRT50
MCID: MNT243
MIFTS: 20
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Mental Retardation, Autosomal Recessive 50 (MRT50)
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 Recessive 50:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in first year of life two sibs from a consanguineous syrian family have been reported (last curated july 2015) HPO:32
mental retardation, autosomal recessive 50:
Onset and clinical course infantile onset Inheritance autosomal recessive inheritance Classifications:
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 recessive 50: 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. MRT50 patients show mild intellectual disability and microcephaly.
MalaCards based summary : Mental Retardation, Autosomal Recessive 50, is also known as mrt50. An important gene associated with Mental Retardation, Autosomal Recessive 50 is EDC3 (Enhancer Of MRNA Decapping 3). Affiliated tissues include skin, bone and eye, and related phenotypes are microcephaly and sensorineural hearing impairment
Description from OMIM:
616460
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616460Human phenotypes related to Mental Retardation, Autosomal Recessive 50:32
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MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 50:41
Skin,
Bone,
Eye
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UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 50:75
ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 50:6
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Search
GEO
for disease gene expression data for Mental Retardation, Autosomal Recessive 50.
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