Human genes for congenital central hypoventilation syndrome
Congenital central hypoventilation syndrome [DOID:0060731]
An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.
Synonyms: congenital central hypoventilation syndrome, congenital central hypoventilation disease, congenital central hypoventilation disorder, congenital central hypoventilation syndromes, DOID:0060731 ...