Global Variome shared LOVD

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Phenotype #0000291674 Individual ID 00398212 Associated disease CMT Phenotype details see paper;Pes cavus (HP:0001761), Difficulty walking (HP:0002355), Distal lower limb muscle weakness (HP:0009053), Distal upper limb muscle weakness (HP:0008959), scoliosis (HP:0002650), Areflexia (HP:0001284), Distal amyotrophy (HP:0003693), Postural instability (HP:0002172), Distal sensory impairment (HP:0002936), Demyelinating sensory neuropathy (HP:0011402) Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite CMT4H Age/Examination 46y (46 years) Age/Diagnosis - Age/Onset 08y Phenotype/Onset Gait disturbance (HP:0001288), Lower limb muscle weakness (HP:0007340) Protein - Owner name Farina Kemper Database submission license Creative Commons Attribution 4.0 International Created by Farina Kemper Date created 2022-01-01 18:39:17 +01:00 (CET) Date last edited 2022-01-06 12:29:40 +01:00 (CET)

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