Global Variome shared LOVD

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

Phenotype #0000291595 Individual ID 00398239 Associated disease CMT Phenotype details see paper; ..., born at term, normal pregnancy, normal psychomotor development (-HP:0001263); 12m-walk; easy fatigability (HP:0003388); kyphoscoliosis (HP:0002571); hand muscle atrophy (HP:0009130); araflexia (HP:0001284); impaired pain sensation (HP:0007328); impaired vibration sensation lower limbs (HP:0002166); horizontal nystagmus (HP:0000666); hearing impairment (HP:0000365) Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite CMT4K Age/Examination 08y (8 years) Age/Diagnosis 42y Age/Onset ? Phenotype/Onset - Protein - Owner name Maeve Soen Database submission license Creative Commons Attribution 4.0 International Created by Maeve Soen Date created 2022-01-02 22:53:15 +01:00 (CET) Date last edited 2022-01-05 10:00:30 +01:00 (CET)

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