MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 (CDG)

Question 1

What is  MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 (CDG)?

Accepted Answer

very rare
autosomal recessive
mutation in the TUSC3 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Inteligenzminderung, nicht-syndromale, autosomal-rezessive - 7

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 611093

Question 4

Which enzymes are involved?

Accepted Answer

Tumor suppressor candidate 3

Disease	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 (CDG)
Synonym	TUSC3-CDG
OMIM	611093 OMIM = Online Mendelian Inheritance of Men
Orphanet	88616
Protein (UniProt)	Tumor suppressor candidate 3
Gene locus	8p22
ICD
Summary	very rare autosomal recessive mutation in the TUSC3 gene
Laboratory findings	IEF of serum transferrin (serum)
Symptoms	mental retardation onset, childhood speech development, delayed, abnormal