MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 (MAN1B1-CDG)

Question 1

What is  MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 (MAN1B1-CDG)?

Accepted Answer

rare
autosomal recessive
mutation in the MAN1B1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Inteligenzminderung, nicht-syndromale, autosomal-rezessive - 15

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614202

Question 4

Which enzymes are involved?

Accepted Answer

Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase

Disease	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 (MAN1B1-CDG)
Synonym	MAN1B1-CDG
OMIM	614202 OMIM = Online Mendelian Inheritance of Men
Orphanet	397941
Protein (UniProt)	Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase
ExPASy	3.2.1.113
Gene locus	9q34.3
ICD	E77.8
Summary	rare autosomal recessive mutation in the MAN1B1 gene
Laboratory findings	IEF of serum transferrin, type 2 pattern (serum)
Symptoms	behavior, abnormal or bizarre, confusion developmental delay dysmorphism hypertelorism hypotonia macrocephaly (large calvaria, >2 SD for age) mental retardation obesity onset, childhood onset, infancy psychomotor retardation seizures