Autosomal Dominant Intellectual Developmental Disorder 19 (MRD19)

Autosomal Dominant Intellectual Developmental Disorder 19(来自ICD-11)
别称:
Autosomal Dominant Non-Syndromic Intellectual Disability 19
Autosomal Dominant Mental Retardation 19
Mrd19
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Basic Information
Medical Symptom
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References Literature
Autosomal Dominant Intellectual Developmental Disorder 19, also known as autosomal dominant non-syndromic intellectual disability 19, is related to neurodevelopmental disorder with spastic diplegia and visual defects and childhood kidney cell carcinoma. An important gene associated with Autosomal Dominant Intellectual Developmental Disorder 19 is SGPL1 (Sphingosine-1-Phosphate Lyase 1), and among its related pathways/superpathways are Infectious disease and Metabolism of proteins. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased mitotic index
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基础信息

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参考文献
MALACARDS
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Unknown
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13
213
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