MRT58
MCID: MNT285
MIFTS: 24
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Mental Retardation, Autosomal Recessive 58 (MRT58)
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 58:Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset at birth three unrelated families have been reported (last curated december 2016) HPO:32
mental retardation, autosomal recessive 58:
Onset and clinical course congenital onset progressive 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 58: 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. MRT58 transmission pattern is consistent with autosomal recessive inheritance.
MalaCards based summary : Mental Retardation, Autosomal Recessive 58, is also known as mrt58. An important gene associated with Mental Retardation, Autosomal Recessive 58 is ELP2 (Elongator Acetyltransferase Complex Subunit 2). Affiliated tissues include skin, bone and eye, and related phenotypes are intellectual disability and hyperreflexia
Description from OMIM:
617270
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617270Human phenotypes related to Mental Retardation, Autosomal Recessive 58:32 (show all 14)
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MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 58:41
Skin,
Bone,
Eye
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ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 58:6
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Search
GEO
for disease gene expression data for Mental Retardation, Autosomal Recessive 58.
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