Global Variome shared LOVD

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Phenotype #0000232763 Individual ID 00306943 Associated disease CMT Phenotype details height SD -3.28, weight SD -2.91, OFC SD -0.94; motor delay; speech delay; mild intellectual disability; facial dysmorphism; sensorineural hearing loss, severe, hearing aid in one ear and a cochlear implant in the other; precocious puberty, mildly increased prolactin; hyporeflexia, reduced range of motion in large joints, knee contractures, crouched and stiff gait; normal electromyogram, normal nerve conduction study; MRI brain 12y-normal; salt and pepper maculopathy, strabismus, oromotor dyspraxia, constipation, autism Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Isolated (sporadic) Diagnosis/Definite DIGFAN Age/Examination 26y07m (26 years, 7 months) 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 21:41:21 +01:00 (CET)

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