MRX100
MCID: MNT223
MIFTS: 19
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Mental Retardation, X-Linked 100 (MRX100)
Categories:
Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Mental Retardation, X-Linked 100:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
x-linked recessive
Miscellaneous:
one family has been reported (last curated july 2014) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Mental diseases Neuronal diseases |
UniProtKB/Swiss-Prot :
73
Mental retardation, X-linked 100: 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 X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX100 clinical features include intellectual disability, epilepsy, microcephaly and cortical malformations.
MalaCards based summary : Mental Retardation, X-Linked 100, is also known as mrx100, and has symptoms including seizures An important gene associated with Mental Retardation, X-Linked 100 is KIF4A (Kinesin Family Member 4A). Related phenotypes are intellectual disability and abnormal facial shape Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has material basis in hemizygous mutation in KIF4A on chromosome Xq13.1. |
Human phenotypes related to Mental Retardation, X-Linked 100:31 (showing 4, show less)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:300923 (Updated 05-Mar-2021)UMLS symptoms related to Mental Retardation, X-Linked 100:seizures |
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Articles related to Mental Retardation, X-Linked 100:(showing 1, show less)
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ClinVar genetic disease variations for Mental Retardation, X-Linked 100:6 (showing 3, show less)
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Search
GEO
for disease gene expression data for Mental Retardation, X-Linked 100.
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