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Aplasia/Hypoplasia of the pyramidal tract

MedGen UID:
870457
Concept ID:
C4024903
Finding
HPO: HP:0007363

Conditions with this feature

Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
MedGen UID:
1794225
Concept ID:
C5562015
Disease or Syndrome
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies (FARIMPD) is an autosomal recessive syndrome characterized by hypotonia in utero resulting in fetal akinesia with generalized joint contractures and arthrogryposis at birth. Affected newborns have 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. Death in infancy usually occurs (summary by Monteiro et al., 2020).

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