MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 (CDG)

Question 1

What is  MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 (CDG)?

Accepted Answer

very rare
autosomal recessive
mutation in the ST3GAL3 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Inteligenzminderung, nicht-syndromale, autosomal-rezessive - 12

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 611090

Question 4

Which enzymes are involved?

Accepted Answer

CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase

Disease	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 (CDG)
Synonym	ST3GAL3-CDG
OMIM	611090 OMIM = Online Mendelian Inheritance of Men
Orphanet	88616
Protein (UniProt)	CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase
ExPASy	2.4.99.6
Gene locus	1q34.1
ICD
Summary	very rare autosomal recessive mutation in the ST3GAL3 gene
Laboratory findings
Symptoms	mental retardation onset, childhood onset, infancy