Global Variome shared LOVD

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

Phenotype #0000232771 Individual ID 00306951 Associated disease CMT Phenotype details height SD -2.5, weight SD -2.82, OFC SD -2.12; motor delay; speech delay; mild intellectual disability (non-verbal); facial dysmorphism; sensorineural hearing loss, moderate, unilateral; precocious puberty; mild hypotonia, patellar hyporeflexia, severe scoliosis; mild axonal neuropathy; MRI brain 9y-normal, previous exams raised concern for possible mild periventricular gliosis; absence seizures, velopharyngeal insufficiency, eosinophilic esophagitis, chronic constipation, history of feeding difficulties Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Isolated (sporadic) Diagnosis/Definite DIGFAN Age/Examination 15y (15 years) 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 21:39:12 +01:00 (CET)

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