Van Esch-O'driscoll Syndrome (VEODS)

Van Esch-O'driscoll Syndrome(来自ICD-11)
别称:
X-Linked Intellectual Disability, Van Esch Type
Mrxsveod
Veods
Mental Retardation, X-Linked, Syndromic, Van Esch-O'driscoll Type
X-Linked Syndromic Mental Retardation Van Esch-O'driscoll Type
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Basic Information
Medical Symptom
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References Literature
Van Esch-O'driscoll Syndrome, also known as x-linked intellectual disability, van esch type, is related to hypogonadotropic hypogonadism 7 with or without anosmia and syndromic x-linked intellectual disability. An important gene associated with Van Esch-O'driscoll Syndrome is POLA1 (DNA Polymerase Alpha 1, Catalytic Subunit), and among its related pathways/superpathways are Cell Cycle, Mitotic and Assembly of the pre-replicative complex. Affiliated tissues include testis and eye, and related phenotypes are failure to thrive and delayed skeletal maturation
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基础信息

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参考文献
MALACARDS
XL
XLD
Unknown
<1/1000000
7
28
2

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