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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)