What is DIGEORGE SYNDROME; DGS?

rare (1:2000 - 1:4000) autosomal dominant

Which enzymes are involved?

T-box transcription factor TBX1

Disease	DIGEORGE SYNDROME; DGS
Synonym	CHROMOSOME 22q11.2 DELETION SYNDROME
OMIM	188400 OMIM = Online Mendelian Inheritance of Men
Orphanet	567
Protein (UniProt)	T-box transcription factor TBX1
Gene locus	22q11.21
ICD	D82.1
Summary	rare (1:2000 - 1:4000) autosomal dominant
Laboratory findings	Calcium dec (serum) Parathyroid hormone (PTH) normal/dec (serum) Phosphate inc (serum)
Symptoms	behavior, abnormal or bizarre, confusion cardiac involvement, cardiac defects developmental delay dysmorphism dysphagia gallstones, cholelithiasis hearing defect, deafness hernia infections (severe or recurrent) learning disability low set ears obesity onset, infancy onset, neonatal psychosis seizures short stature strabismus swallowing difficulties tetany