Syndromic X-Linked Intellectual Disability 34

Syndromic X-Linked Intellectual Disability 34(来自ICD-11)
别称:
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Syndromic X-Linked Mental Retardation Mircsof-Langouet Type
Mental Retardation, X-Linked, Syndromic 34
Mrxs34
Mrxsml
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Syndromic X-Linked Intellectual Disability 34, also known as macrocephaly-intellectual disability-left ventricular non compaction syndrome, is related to intellectual developmental disorder, x-linked, syndromic 34 and myasthenic syndrome, congenital, 20, presynaptic. An important gene associated with Syndromic X-Linked Intellectual Disability 34 is NONO (Non-POU Domain Containing Octamer Binding), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Mesenchymal Stem Cells and Lineage-specific Markers. Affiliated tissues include cerebellum and brain, and related phenotypes are relative macrocephaly and delayed speech and language development
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MALACARDS
XL
XLD
Infant
<1/1000000
5
109
5

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