Global Variome shared LOVD

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Phenotype #0000333173 Individual ID 00443909 Associated disease ? Diagnosis/Initial spastic cerebral palsy Diagnosis/Definite NEDSWMA Phenotype details see paper; ..., full-term normal delivery; no severe learning disability; no epilepsy; no microcephaly; severe ataxic gait; increased lower limb reflexes/tone; plantar response upgoing; muscle wasting lower limbs; 2y6m-walk, 22y-partially wheelchair-bound; horizontal ophthalmoplegia, ERG substantially reduced responses on right, absent on left; normal CPK and lactate, amino acids (blood and urine), organic acids, ferritin and caeruloplasmin Inheritance Familial, autosomal recessive Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset 2y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-12-06 12:32:04 +01:00 (CET) Date last edited N/A

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