Periventricular Nodular Heterotopia 1 (PVNH1)

Alias:

Heterotopia, Periventricular, X-Linked Dominant

Heterotopia, Periventricular, Ehlers-Danlos Variant

Periventricular Nodular Heterotopia 4, Formerly

Nodular Heterotopia, Bilateral Periventricular

Heterotopia, Familial Nodular

Pvnh1

Nhbp

Periventricular Heterotopia Ehlers-Danlos Variant

Nodular Heterotopia Bilateral Periventricular

Periventricular Heterotopia X-Linked Dominant

Periventricular Nodular Heterotopia 4

Periventricular Heterotopia, X-Linked

Heterotopia, Periventricular, Type 1

Heterotopia, Periventricular, 1

Familial Nodular Heterotopia

Pvnh4, Formerly

Pvnh4

Bpnh

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Periventricular Nodular Heterotopia 1, also known as heterotopia, periventricular, x-linked dominant, is related to periventricular nodular heterotopia and periventricular nodular heterotopia 8. An important gene associated with Periventricular Nodular Heterotopia 1 is FLNA (Filamin A). Affiliated tissues include cortex and brain, and related phenotypes are short finger and cerebellar hypoplasia

Related ID：

MALACARDS：PRV019

OMIM：300049

MESH：D054091