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Congenital central hypoventilation syndrome
- Congenital central hypoventilation syndrome (CCHS) is a disorder that affects normal breathing. People with this disorder take shallow breaths (hypoventilate), especially ...
- Congenital Central Hypoventilation Syndrome (Genetic and Rare Diseases Information Center)Autonomic Nervous System Disorders/Specifics ... Autonomic Nervous System Disorders ... Genetic and Rare Diseases Information Center ... From the National Institutes ...
- ... EM, Zhou L, Rand CM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit ... in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome. Hum Mutat. 2018 Feb;39(2):219-236. ...
- Autonomic Nervous System Disorders (National Library of Medicine)Your autonomic nervous system is the part of your nervous system that controls involuntary actions, such as the beating of your heart and the widening or ...
- ... Waardenburg syndrome, type IV; Mowat-Wilson syndrome; or congenital central hypoventilation syndrome. These cases are described as syndromic. Hirschsprung disease ...