Global Variome shared LOVD

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Phenotype #0000256873 Individual ID 00361468 Associated disease ? Diagnosis/Initial polyneuropathy Diagnosis/Definite - Phenotype details see paper; ..., OFC (50th), length (92nd), weight (52nd), BMI 24.3; delayed motor milestones, 18m-walk with aid; delayed speech development; mild intellectual disability; Impaired smooth-pursuit and saccade eye movement, convergent strabismus; dysarthria; scoliosis; lower limb weakness, feet equinovarus, hammer toes; 13y-type 1 diabetes, 24y-low vitamin D; upper limb atrophy (distal/proximal), normal upper limb tone, lower limb weakness, finger abduction and thumb opposition, normal upper limb reflexes, no upper limb sensory problems, hand deformity, radial deviation in the elbow and wrist, lower limb atrophy (distal/proximal), m.pretibial > m.gastrocnemius, normal lower limb tone, lower limb weakness (distal/proximal), dorsiflexion and plantar flexion feet and toes, reduced Achilles reflexes, lower limb sensory problems, pallhypestesia toes, left foot varus deformity, high arched feet, bilaterally hammer toes, wide, peroneal gait, no spasticity, no ataxia Inheritance Familial, autosomal recessive Age/Examination 26y (26 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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