Global Variome shared LOVD

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

Phenotype #0000232765 Individual ID 00306945 Associated disease CMT Phenotype details height SD -1.58, weight SD -0.93, OFC SD -1.35; motor delay; speech delay; facial dysmorphism; no hearing loss; no endocrine anomalies; axial hypotonia, appendicular hypertonia (more pronounced in the lower extremities), hyperreflexia and extensor plantar response; MRI brain 10m-normal; non-specific peripheral retinal deposits Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Isolated (sporadic) Diagnosis/Definite DIGFAN Age/Examination 01y03m (1 year, 3 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 21:42:06 +01:00 (CET)

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