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GENATLAS PHENOTYPE
last update : 14-06-2016
Symbol PMSE
Location 17q23.3
Name polyhydramnios, megalencephaly and symptomatic epilepsy
Other name(s)
  • Pretzel syndrome
  • Corresponding gene STRADA
    Main clinical features
  • polyhydramnios, preterm labour and distinctive craniofacial features, large heads, infantile-onset intractable multifocal seizures and severe psychomotor retardation
  • early death from medical complications of the disorder, which included status epilepticus, congestive heart failure due to atrial septal defect and hypernatremic dehydration due to diabetes insipidus
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)