What is CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (CDG2T)?

very rare autosomal recessive mutation in the GALNT2 gene

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (CDG2T)

Disease	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (CDG2T)
Synonym	GALNT2-CDG
OMIM	618885 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
ExPASy	---
Gene locus	1q42.13
ICD	---
Summary	very rare autosomal recessive mutation in the GALNT2 gene
Laboratory findings	HDL-Cholesterol dec (serum) Triglycerides dec (serum) Vitamin D dec (serum)
Symptoms	anemia behavior, abnormal or bizarre, confusion behavior, autism or autistic-like brachycephaly constipation defect of walking, running, rising or climbing developmental delay dysmorphism dysphagia epilepsy feeding difficulties, poor feeding gait disturbance growth retardation, poor growth hypertelorism hypotonia intellectual disability/intellectual developmental disorder large or wide mouth long facies low set ears microcephaly (<2 SD for age) nystagmus onset, childhood onset, infancy seizures short philtrum short stature speech development, delayed, abnormal strabismus white matter changes, abnormalities