Global Variome shared LOVD

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Phenotype #0000256872 Individual ID 00361467 Associated disease ? Diagnosis/Initial polyneuropathy Diagnosis/Definite - Phenotype details see paper; ..., OFC (75th), length (90th), weight (99th), BMI 32.3; no delayed motor milestones, 15m-walk; no delayed speech development; mild intellectual disability; Impaired smooth–pursuit and saccade eye movement; dysarthria; no scoliosis; lower limb weakness, feet equinovarus, hammer toes; 10y-metabolic syndrome with insulin resistance, 9y-hypothyroidism; no upper limb atrophy (distal/proximal), normal upper limb tone, no lower limb weakness, normal upper limb reflexes, no upper limb sensory problems, no hand deformity, no lower limb atrophy (distal/proximal), normal lower limb tone, lower limb weakness (distal/proximal), feet dorsiflexion, normal lower limb reflexes, no lower limb sensory problems, left foot varus deformity, left foot inversion while walking, no spasticity, no ataxia Inheritance Familial, autosomal recessive Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset - 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 2021-04-07 09:00:28 +02:00 (CEST) Date last edited N/A

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