MRT71
MCID: INT348
MIFTS: 19
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Intellectual Developmental Disorder, Autosomal Recessive 71 (MRT71)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases
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MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Recessive 71:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
seizures are well-controlled by medication and usually remit spontaneously two unrelated consanguineous saudi families have been reported (last curated july 2019) HPO:31
intellectual developmental disorder, autosomal recessive 71:
Inheritance autosomal recessive inheritance Classifications: |
UniProtKB/Swiss-Prot :
73
Intellectual developmental disorder, autosomal recessive 71: 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. Intellectual deficiency is the only primary symptom of non-syndromic mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRT71 features include impaired intellectual development, global developmental delay, mildly delayed walking, poor language, seizures in the first years of life, and behavioral abnormalities.
MalaCards based summary : Intellectual Developmental Disorder, Autosomal Recessive 71, is also known as mrt71. An important gene associated with Intellectual Developmental Disorder, Autosomal Recessive 71 is ALKBH8 (AlkB Homolog 8, TRNA Methyltransferase). Affiliated tissues include eye and kidney, and related phenotypes are ventricular septal defect and global developmental delay |
Human phenotypes related to Intellectual Developmental Disorder, Autosomal Recessive 71:31 (show all 13)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618504 |
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MalaCards organs/tissues related to Intellectual Developmental Disorder, Autosomal Recessive 71:40
Eye,
Kidney
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Articles related to Intellectual Developmental Disorder, Autosomal Recessive 71:
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ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Recessive 71:6
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Search
GEO
for disease gene expression data for Intellectual Developmental Disorder, Autosomal Recessive 71.
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