Global Variome shared LOVD

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

Phenotype #0000359453 Individual ID 00474661 Associated disease NDD Diagnosis/Initial peripheral neuropathy Diagnosis/Definite NMAN Phenotype details see paper; ..., abnormal without aids; scoliosis; no deep tendon reflexes; NA; myotonia; lordosis, irregular tremor on the finger‐nose test, overweight, hip hyperlaxity, chronic constipation; axonal motor, sensory neuropathy; neuromyotonia; neurodevelopmental disorder; depression, TDAH Inheritance Familial, autosomal recessive Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset 6y Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-19 16:27:05 +01:00 (CET) Date last edited N/A

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