Global Variome shared LOVD

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

Phenotype #0000232774 Individual ID 00306954 Associated disease CMT Phenotype details height SD -2.07, weight SD -0.82, OFC SD -3.27; motor delay; speech delay; moderate intellectual disability; facial dysmorphism; sensorineural hearing loss, progressive, bilateral, has cochlear implants; precocious puberty; hypotonia, difficulty with tandem gait, trips when running, mild intention tremor; normal at age 9 years; MRI brain delayed myelination, mild cerebellar volume loss; linear hypopigmentation in extremities, progressive hyperopia, mild retinal changes with normal ERG Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Isolated (sporadic) Diagnosis/Definite CMT2Z Age/Examination 9y (9 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 N/A

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