Phenotype #0000293334

Individual ID 00400225
Associated disease CMT2
Phenotype details Toe walking (HP:0040083), Pes cavus (HP:0001761), Foot dorsiflexor weakness (HP:0009027), Distal muscle weakness (HP:0002460), Distal amyotrophy (HP:0003693), Gait disturbance (HP:0001288), Inability to walk (HP:0002540), No areflexia (-HP:0001284), Impaired vibratory sensation (HP:0002495), Impaired tactile sensation (HP:0010830), Sensorimotor neuropathy (HP:0007141), Delayed ability to walk (HP:0031936)
Diagnosis/Initial CMT
Inheritance Familial, autosomal recessive
Diagnosis/Definite CMT2
Age/Examination 10y (10 years)
Age/Diagnosis -
Age/Onset 01y06m
Phenotype/Onset 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 Yvet den Hartog
Date created 2022-01-26 14:11:10 +01:00 (CET)
Date last edited 2022-01-26 15:13:56 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.