Periventricular Heterotopia with Microcephaly, Autosomal Recessive (ARPHM)

Periventricular Heterotopia with Microcephaly, Autosomal Recessive(来自ICD-11)

别称:

Heterotopia, Periventricular, Autosomal Recessive

Periventricular Heterotopia with Microcephaly

Periventricular Nodular Heterotopia 2

Arphm

Pvnh2

Periventricular Heterotopia with Microcephaly Autosomal Recessive

Autosomal Recessive Periventricular Nodular Heterotopia Type 2

Periventricular Heterotopia Autosomal Recessive

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Periventricular Heterotopia with Microcephaly, Autosomal Recessive, is also known as heterotopia, periventricular, autosomal recessive, and has symptoms including seizures and quadriparesis. An important gene associated with Periventricular Heterotopia with Microcephaly, Autosomal Recessive is ARFGEF2 (ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2). Affiliated tissues include cortex and brain, and related phenotypes are failure to thrive and intellectual disability

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