Global Variome shared LOVD

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Phenotype #0000291596 Individual ID 00398311 Associated disease CMT Phenotype details see paper; ..., easy fatigability (HP:0003388); kyphoscoliosis (HP:0002571); muscle atrophy (HP:0009130); araflexia HP:0001284); impaired pain sensation (HP:0007328); impaired vibration sensation lower limbs (HP:0002166); ataxia (HP:0001251); horizontal nystagmus (HP:0000666); hearing impairment (HP:0000365) Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite CMT4K Age/Examination 57y (57 years) Age/Diagnosis 57y Age/Onset 10y? Phenotype/Onset hand muscle atrophy(HP:0009130), araflexia HP:0001284), impaired pain sensation (HP:0007328) Protein - Owner name Maeve Soen Database submission license Creative Commons Attribution 4.0 International Created by Maeve Soen Date created 2022-01-03 21:41:55 +01:00 (CET) Date last edited 2022-01-05 10:23:47 +01:00 (CET)

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