MRT44
MCID: MNT221
MIFTS: 21
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Mental Retardation, Autosomal Recessive 44 (MRT44)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 44:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy variable severity HPO:31
mental retardation, autosomal recessive 44:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Mental diseases Gastrointestinal diseases Ear diseases |
UniProtKB/Swiss-Prot :
73
Mental retardation, autosomal recessive 44: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT44 manifestations include mild to severe cognitive impairment, delayed psychomotor development, seizures in some patients, and dysmorphic features.
MalaCards based summary : Mental Retardation, Autosomal Recessive 44, is also known as mrt44. An important gene associated with Mental Retardation, Autosomal Recessive 44 is METTL23 (Methyltransferase Like 23). Related phenotypes are depressed nasal bridge and pes planus |
Human phenotypes related to Mental Retardation, Autosomal Recessive 44:31 (show all 9)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:615942 (Updated 05-Mar-2021) |
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Articles related to Mental Retardation, Autosomal Recessive 44:
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ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 44:6
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GEO
for disease gene expression data for Mental Retardation, Autosomal Recessive 44.
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