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GENATLAS PHENOTYPE
last update : 10-10-2017
Symbol MEHMO
Location Xp22.11
HGNC id 6999
Name mental retardation, epileptic seizures hypertonia, hypogonadism and hypogenitalism, microcephaly and obesity
Other name(s) MEHMO syndrome
Corresponding gene EIF2S3
Other symbol(s) MRXS25, MRXS20
Main clinical features
  • moderate-to-severe mental retardation, microcephaly, short stature, and facial dysmorphic features, behavioral impairments, generalized seizures, and postpubertal microgenitalism and obesity
  • occasionaly associated with ichthyosis, hyposmia or anosmia, mitochondrial disorder
  • brain magnetic resonance imaging revealed a thin corpus callosum and enlarged lateral ventricles
  • Genetic determination sex linked
    Function/system disorder congenital malformation
    mental retardation
    Type disease
    Remark(s)
  • X-linked mitochondrial disorder
  • 222T mutation in human EIF2S3, impair eIF2 complex integrity leading to defects in translation initiation including impaired ternary complex (TC) function and decreased fidelity in start site selection (PMID: 23063529))