Global Variome shared LOVD

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Phenotype #0000296449 Individual ID 00403750 Associated disease CMT Phenotype details normal pregnancy and delivery, normal developmental milestones; 8y-progressive trophic changes feet in form of frequent ulceration sole feet; sensory loss distal parts limbs; frequent ulcer surgeries, 9y6m-osteomyelitis; no distal muscle weakness; walks without support; bilateral pes cavus, hammer toes, tropic changes feet, clubbing fingers, hyperextension fingers, distal hypotonia around ankles and toes; normal muscle power upper and lower limbs, bilateral loss deep reflexes ULs and LLs, lost abdominal reflexes, bilateral planter flexion, stocking hypoesthesia, impaired deep sensation both LLs; no electrical motor and sensory response distally both LLs; no electrical sensory response distally both ULs; normal electrical motor response distally both ULs Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite CMT2EE Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Sherifa Ahmed Hamed Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-02-21 14:58:38 +01:00 (CET) Date last edited N/A

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