Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities (CONRIBA)

Alias:

Neurodegeneration, Childhood-Onset, Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities

Conriba

Clcn6-Related Childhood-Onset Progressive Neurodegeneration-Peripheral Neuropathy Syndrome

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Gene & Mutation

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Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities, is also known as neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities. An important gene associated with Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities is CLCN6 (Chloride Voltage-Gated Channel 6). Affiliated tissues include brain and cerebellum, and related phenotypes are respiratory insufficiency and global developmental delay

Related ID：

MALACARDS：NRD117

OMIM：619173

MESH：D020271