Disease - Congenital arthrogryposis with anterior horn cell disease
- DefinitionAn autosomal recessive disorder characterized by fetal akinesia, arthrogryposis and motor neuron loss. The fetus often survives delivery, but dies early as a result of respiratory failure. Neuropathological findings resemble those of lethal congenital contracture syndrome type 1, but are less severe.
- AcronymCAAHD
- Alternative names
- Cross references
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Browse 1 entry- mRNA export factor GLE1 · Gene: GLE1 (GLE1L) · Homo sapiens (Human) · 698 amino acids · Evidence at protein level · Annotation score: 5/5