Global Variome shared LOVD

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Phenotype #0000267001 Individual ID 00371664 Associated disease SPOAN Diagnosis/Initial spastic paraplegia, optic atrophy, neuropathy Diagnosis/Definite SPOAN Phenotype details progressive spastic paraplegia in infancy, progressive motor and sensory axonal neuropathy in late childhood/early adolescence leading to severe motor disability; >15y-wheelchair bound, progressive joint contractures, spine deformities; subnormal vision secondary to apparently non-progressive congenital optic atrophy, dysarthria starting third decade of life, exacerbated acoustic startle response; no intellectual disability Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-05-04 09:05:51 +02:00 (CEST) Date last edited N/A

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