Periventricular Nodular Heterotopia (PVNH)

Periventricular Nodular Heterotopia(来自ICD-11)
别称:
Periventricular Heterotopia
Pvnh
Periventricular Heterotopia, X-Linked
Familial Nodular Heterotopia
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Periventricular Nodular Heterotopia, also known as periventricular heterotopia, is related to periventricular nodular heterotopia 9 and van maldergem syndrome 2. An important gene associated with Periventricular Nodular Heterotopia is FLNA (Filamin A), and among its related pathways/superpathways are Cytoskeletal Signaling and Neurogenesis regulation in the olfactory epithelium. Affiliated tissues include brain and fetal brain, and related phenotypes are scoliosis and gastroesophageal reflux
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相关ID:
MESH:D054091

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参考文献
MALACARDS
XLR
AR
AD
XL
Child
--
87
737
2

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