Visit Metagene.de!
Summary
HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 (HOMGSMR1)
616418
OMIM = Online Medalian Inheritance of Men
32457
10q24.32
very rare
autosomal recessive
autosomal dominant
mutation in the CNNM2 gene
symptoms
mental retardation
microcephaly (<2 SD for age)
myelination, incomplete, hypomyelination
onset, infancy
psychomotor retardation
seizures
speech development, delayed, abnormal
laboratory finding
Magnesium mmol/lserum
Literature
Nguyen AKD,et al.Prospective Associations Between Infant Sleep at 12 Months and Autism Spectrum Disorder Screening Scores at 24 Months in a Community-Based Birth CohortJ Clin Psychiatry7912018
Moran R,et al.Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-IAm J Med Genet A1582455-4502012
Janus M,et al.Behavior profiles of children with autism spectrum disorder in kindergarten: Comparison with other developmental disabilities and typically developing childrenAutism Res002017