MRXST
MCID: SYN090
MIFTS: 25
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Syndromic X-Linked Intellectual Disability Turner Type (MRXST)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Syndromic X-Linked Intellectual Disability Turner Type:
Characteristics:Orphanet epidemiological data:58
x-linked intellectual disability, brooks type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Anatomical: Neuronal diseases Mental diseases
ICD10:
32
33
Orphanet: 58
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Disease Ontology :
12
A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has material basis in mutation in the HUWE1 gene on chromosome Xp11.22.
MalaCards based summary : Syndromic X-Linked Intellectual Disability Turner Type, also known as x-linked intellectual disability, brooks type, is related to mental retardation, x-linked, syndromic, turner type and brown syndrome. An important gene associated with Syndromic X-Linked Intellectual Disability Turner Type is ACOT9 (Acyl-CoA Thioesterase 9). Affiliated tissues include eye, and related phenotypes are hearing impairment and intellectual disability |
Diseases related to Syndromic X-Linked Intellectual Disability Turner Type via text searches within MalaCards or GeneCards Suite gene sharing:(show all 15)
Graphical network of the top 20 diseases related to Syndromic X-Linked Intellectual Disability Turner Type:![]() |
Human phenotypes related to Syndromic X-Linked Intellectual Disability Turner Type:58 31 (show all 44)
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MalaCards organs/tissues related to Syndromic X-Linked Intellectual Disability Turner Type:40
Eye
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Articles related to Syndromic X-Linked Intellectual Disability Turner Type:
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Search
GEO
for disease gene expression data for Syndromic X-Linked Intellectual Disability Turner Type.
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