Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities (HIDEA)

Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities, also known as hidea, is related to dysautonomia and hypotonia. An important gene associated with Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities is P4HTM (Prolyl 4-Hydroxylase, Transmembrane). Affiliated tissues include eye and lung, and related phenotypes are coarse facial features and global developmental delay