Phenotype #0000291627

Individual ID 00398500
Associated disease CMT
Phenotype details Birth-ocular disease; glaucoma (HP:0000501); 12y-hammertoe (HP:0001765); distal lower limb muscle weakness (HP:0009053); no UL-hand muscle atrophy (-HP:0009130); no muscle atrophy, lower limb, distal (-HP:0008944); pes cavus (HP:0001761); no scoliosis (-HP:0002650)
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite CMT4B2
Age/Examination 16y (16 years)
Age/Diagnosis 12y
Age/Onset -
Phenotype/Onset hammertoe (HP:0001765)
Protein -
Owner name Sarah El-Bestawi
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Sarah El-Bestawi
Date created 2022-01-05 15:47:41 +01:00 (CET)
Date last edited 2022-01-06 15:36:44 +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.