Global Variome shared LOVD

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Phenotype #0000291597 Individual ID 00398350 Associated disease CMT Phenotype details see paper; ..., hand muscle atrophy (HP:0009130); araflexia (HP:0001284); impaired pain sensation (HP:0007328); impaired vibration sensation lower limbs (HP:0002166); abnormal brainstem morphology (HP:0002363); ataxia (HP:0001251) Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite CMT4K Age/Examination 03y (3 years) Age/Diagnosis >10y Age/Onset 03y Phenotype/Onset - Protein - Owner name Maeve Soen Database submission license Creative Commons Attribution 4.0 International Created by Maeve Soen Date created 2022-01-05 00:34:01 +01:00 (CET) Date last edited 2022-01-05 10:32:38 +01:00 (CET)

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