Global Variome shared LOVD

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Phenotype #0000292675 Individual ID 00399570 Associated disease CMTX1 Phenotype details see paper; ..., hearing impairment (HP:0000365); dysesthesia (HP:0012534); muscle weakness (HP:0001324); reduced tendon reflexes (HP:0001315); distal amyotrophy (HP:0003693); areflexia (HP:0001284); clubbing of fingers (HP:0100759); soft tissue swelling of interphalangeal joints (HP:0006162); split hand HP:0001171; pes cavus (HP:0001761); steppage gait (HP:0003376); mixed demyelinating and axonal polyneuropathy (HP:0007327) Diagnosis/Initial CMT1X Inheritance Familial, X-linked dominant Diagnosis/Definite - Age/Examination 39y (39 years) Age/Diagnosis - Age/Onset 12y Phenotype/Onset gait disturbance (HP:0001288); frequent falls (HP:0002359) Protein - Owner name Maeve Soen Database submission license Creative Commons Attribution 4.0 International Created by Maeve Soen Date created 2022-01-21 22:10:15 +01:00 (CET) Date last edited 2022-01-24 11:39:34 +01:00 (CET)

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