Global Variome shared LOVD

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

Phenotype #0000296445 Individual ID 00403694 Associated disease CMT Phenotype details uneventful pregnancy and delivery; normal developmental milestones; 4y-progressive distal weakness, wasting of LT LL, foot inversion, foot drop with deformity; developed progressive distal weakness, wasting ULs and LLs, progressive diminished sensation ULs and LLs (stocking, glove distribution), marked imbalance occurs in dim vision, attacks of palpitation; no cranial nerve affection, no sphincteric disturbance; walks support, wears foot brace; bilateral flexion deformities of fingers, bilateral foot drop, flexion deformities feet, high arched feet (equinous deformities, trophic ulcerations), bilateral wasting both ULs and LLs (distal and proximal), fingers, hand grips, toes, ankles (grade 0); normal muscle power around knees, hips, shoulders; bilateral lost deep reflexes ULs and LLs; no planter response, long stocking and glove hypoesthesia; impaired deep sensation both LLs; severe axonal neuropathy with secondary demyelination Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite CMT2EE Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Sherifa Ahmed Hamed Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-02-21 14:25:23 +01:00 (CET) Date last edited N/A

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