Clinical features
Mutations in P4HTM cause a distinctive multiple congenital anomaly syndrome called HIDEA syndrome, commonly characterized by hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities.
Prevalence
The prevalence of P4HTM-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
P4HTM-related multiple congenital anomaly syndrome is inherited in an autosomal recessive manner.
P4HTM