Global Variome shared LOVD

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

Phenotype #0000232762 Individual ID 00306942 Associated disease CMT Phenotype details height SD -3.13, weight SD -2.36, OFC SD -5.03; motor delay; speech delay; moderate intellectual disability; facial dysmorphism; no hearing loss; vitamin D deficiency; high arches, hyporeflexia in lower extremities; MRI brain severe delay in myelination with T2 hyperintensity in the substantia nigra, mild cerebral atrophy; severe gastresophageal reflux, hyperopia, ptosis, capillary hemangioma Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Isolated (sporadic) Diagnosis/Definite DIGFAN Age/Examination 04y10m (4 years, 10 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 21:40:55 +01:00 (CET)

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