Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient.

Abstract excerpt

NGLY1 deficiency is a rare congenital disorder of deglycosylation with a unique constellation of symptoms that include hypo- or alacrima, movement disorder, epilepsy, and severe intellectual disability (OMIM #615273). Here we report a patient with NGLY1 deficiency whose clinical presentation lacks many of the features associated with the disease and has a much milder intellectual disability than had been...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Congenital Disorders of Glycosylation
• Share to Intellectual Disability
• Share to Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase