An inherited disorder associated with hypotonia and respiratory acidosis in infancy. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance.
Save Babies
Newborn screenings save babies, one foot at a time
Resources
FAQs – Pregnant Families
FAQs – Initial Positive Screens
FAQs – Bloodspots
Videos
Families with Diagnoses
Disorder Descriptions
For Practitioners
