Global Variome shared LOVD

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Phenotype #0000058320 Individual ID 00078544 Associated disease ALS Phenotype details muscle weakness extended to all 4 limbs (HP:0003690), bulbar signs (HP:0002483), severe amyotrophy of all 4 limbs (HP:0003202), diminished deep tendon reflexes (HP:0001265), extensor plantar reflexes (HP:0003487), tongue atrophic (HP:0012473), complete tetraparesis (HP:0002273), hearing difficulty (HP:?), mental impairment ( HP:0100543), complete limb palsy (HP:?), atrophy of the frontal and temporal lobes (HP:0006892), dementia (HP:0000726) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 62y Phenotype/Onset spondylotic myelopathy (HP:0002318) Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-07-20 10:25:57 +02:00 (CEST) Date last edited 2017-11-17 22:22:16 +01:00 (CET)

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