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First clinical signs can be detected already at the age of 5 weeks (reduced cone ERG response)
It is characterized by abnormal hematologic findings
The condition is caused by complete absence of fibrinogen
DCM3 carrier
Due to severe clinical phenotype and symptoms
Polyneuropathie 1 (LPN1) - Leonberger Searchterm First clinical signs can beLeonberger Polyneuropathy 1 (LPN1) is a polyneuropathy condition (PN) that is associated with a mutation in ARHGEF10 gene. A loss of function of the gene may lead to the loss of proper nerve signalling. Polyneuropathy can display a wide range of age of onset and may appear due to the mutations in other genes (GJA9, NDRG1) with a different mode of inheritance. Clinical signs include generalized weakness, hypotonia, muscle atrophy secondary to
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