Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type (MRXSN)

Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type(来自ICD-11)
别称:
Mental Retardation, X-Linked, Syndromic, Nascimento Type
Mrxs30
Mrxsn
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento-Type
Intellectual Developmental Disorder, X-Linked Syndromic, Nascimento Type
X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome
Syndromic X-Linked Intellectual Disability Nascimento Type
Mental Retardation, X-Linked Syndromic, Nascimento-Type
X-Linked Intellectual Disability, Nascimento Type
Mental Retardation, X-Linked, Syndromic 30
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References Literature
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type, also known as mental retardation, x-linked, syndromic, nascimento type, is related to syndromic x-linked intellectual disability nascimento type, and has symptoms including seizures and dry skin. An important gene associated with Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type is UBE2A (Ubiquitin Conjugating Enzyme E2 A). Affiliated tissues include skin and pons, and related phenotypes are dry skin and wide mouth
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MALACARDS
XL
XLD
Infant
<1/1000000
1
4
6

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