Global Variome shared LOVD

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Phenotype #0000337434 Individual ID 00448224 Associated disease neuropathy, optic Phenotype details Optic neuropathy (HP:0001138); Juvenile onset (HP:0003621); Severely reduced visual acuity (HP:0001141); Slow decrease in visual acuity (HP:0007924); Optic atrophy (HP:0000648); Central scotoma (HP:0000603); Reduced OCT-measured macular thickness (HP:0030607); Hamstring contractures (HP:0003089); Muscle spasm (HP:0003394); Postural tremor (HP:0002174); Postural instability (HP:0002172); EMG abnormality (HP:0003457); Motor polyneuropathy (HP:0007178); Peripheral neuropathy (HP:0009830) Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset <08y Phenotype/Onset - Protein - Owner name Marc Ferre Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Marc Ferre Date created 2024-02-23 09:37:30 +01:00 (CET) Date last edited 2024-02-23 12:17:28 +01:00 (CET)

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