Global Variome shared LOVD

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

Phenotype #0000232772 Individual ID 00306952 Associated disease CMT Phenotype details height SD -2.76, weight SD 0.1, OFC SD -2.64; no motor delay; speech delay; mild intellectual disability; facial dysmorphism; sensorineural hearing loss, unilateral hearing aid; hypothyroidism, premature thelarche, PCOS; weakness, hypotonia, normal reflexes, poor balance and coordination, lordosis; MRI brain cerebral and cerebellar volume loss, a couple of foci of T2 hyperintensity in cerebral white matter; narrow shoulders, brachydactyly, small hands, clinodactyly, myopia, possible macular degeneration, gastresophageal reflux, gallbladder disease, heterochromia Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Unknown Diagnosis/Definite DIGFAN Age/Examination 34y (34 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 21:39:33 +01:00 (CET)

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