SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (SCDO3)

Question 1

What is  SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (SCDO3)?

Accepted Answer

very rare

autosomal recessive

mutation in the LFNG gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 609813

Question 3

Which enzymes are involved?

Accepted Answer

Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe

Disease	SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (SCDO3)
OMIM	609813 OMIM = Online Mendelian Inheritance of Men
Orphanet	2311
Protein (UniProt)	Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe
Gene locus	7p22.3
ICD	Q76.8
Summary	very rare autosomal recessive mutation in the LFNG gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	costovertebral abnormalities decreased body height finger anomalies onset, childhood onset, fetus onset, infancy onset, neonatal short stature skoliosis, kyphoskoliosis