MEHMO syndrome
Definition:
MEHMO syndrome is a rare X-linked syndrome characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It has been reported that MEHMO syndrome is associated with mutations in the X chromosome gene EIF2S3. EIF2S3 encodes the subunit of the eukaryotic translation initiation factor 2 (eIF2).
References:
-
[1]. Esther Leshinsky-Silver, et al. MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder. Eur J Hum Genet. 2002 Apr;10(4):226-30. [Content Brief]
[2]. Martina Skopkova, et al. EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Hum Mutat. 2017 Apr;38(4):409-425. [Content Brief]
Biomedical Dictionary
The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.
Molarity Calculator
Dilution Calculator
