Phenotype #0000290778

Individual ID 00396454
Associated disease CMT
Phenotype details see paper; congenital bilateral hearing loss (HP:0000365), delayed ability to walk (HP:0031936); 11y-reduced visual acuity (HP:0007663); normal intelligence (-HP:0001249), difficulty grasping chopstick, difficulty writing, wheelchair-bound (HP:0006957); bilateral optic atrophy (HP:0000648); claw hand (HP:0001171), pes cavus (HP:0001761), distal muscle weakness (HP:0002460), hypesthesia, muscular atrophy hands/legs (HP:0009055), impaired vibration sensation ankles (HP:0006938), reduced tendon reflexes (HP:0001315), highly elevated creatine kinase (HP:0030234), sensory neuropathy (HP:0000763), ...
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Unknown
Diagnosis/Definite CMTX5
Age/Examination 33y (33 years)
Age/Diagnosis -
Age/Onset 03y
Phenotype/Onset hearing loss (HP:0000365), delayed ability to walk (HP:0031936)
Protein -
Owner name Yvet den Hartog
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-12-27 16:09:09 +01:00 (CET)
Date last edited 2021-12-27 16:09:34 +01:00 (CET)

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