| 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
| | |