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GENATLAS PHENOTYPE

last update : 14-05-2024

Symbol	FARIMPD
Location	1q23.2
Name	fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
Corresponding gene	ATP1A2
Main clinical features	hypotonia in utero resulting in fetal akinesia with generalized joint contractures and arthrogryposis at birth; severe respiratory insufficiency at birth requiring ventilation and significant dysmorphic facial features; seizures may also occur brain imaging shows variable malformations of cortical development, most commonly polymicrogyria or other gyral anomalies early death
Genetic determination
Function/system disorder
Type	disease

Remark(s)