Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000232761 Individual ID 00306941 Associated disease CMT Phenotype details height SD -3.66, weight SD -5.6, OFC SD -2.05; motor delay; speech delay; mild intellectual disability; no facial dysmorphism; no hearing loss; delayed puberty, growth hormone deficiency, hypothyroidism; high arches, toe walking, spasticity, hyperreflexia; MRI brain 14y-normal Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Isolated (sporadic) Diagnosis/Definite DIGFAN Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-24 12:53:42 +02:00 (CEST) Date last edited 2023-12-04 21:40:26 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.