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CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1

Hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion [MISCELLANEOUS]

Some patients have later onset of the disorder as young adults [MISCELLANEOUS]

Caused by mutation in the paired-like homeobox 2B gene (PHOX2B, 603851.0001) [MOLECULAR BASIS]

Onset usually at birth [MISCELLANEOUS]

Patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system [MISCELLANEOUS]

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4p12

Phenotype description, molecular basis known.

209880

3

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