HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 (HOMGSMR1)

Question 1

What is  HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 (HOMGSMR1)?

Accepted Answer

very rare

autosomal recessive

autosomal dominant

mutation in the CNNM2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 616418

Question 3

Which enzymes are involved?

Accepted Answer

Metal transporter CNNM2

Disease	HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 (HOMGSMR1)
OMIM	616418 OMIM = Online Mendelian Inheritance of Men
Orphanet	32457
Protein (UniProt)	Metal transporter CNNM2
Gene locus	10q24.32
ICD	E83.4
Summary	very rare autosomal recessive autosomal dominant mutation in the CNNM2 gene
Laboratory findings	Magnesium dec (serum)
Symptoms	mental retardation microcephaly (<2 SD for age) myelination, incomplete, hypomyelination onset, infancy psychomotor retardation seizures speech development, delayed, abnormal