Phenotype #0000358776

Individual ID 00473981
Associated disease HMSN
Phenotype details Hypotonia since 5-mo; Febrile seizures 2.5y, Delayed walking; Facial muscle weakness; Generalized muscle weakness & atrophy, lower & upper; Scoliosis; Steppage gait; Foot drop; Areflexia; Wheelchair bound; Echocardiography: mild MVP & TR; EMG-NCV: demyelinating sensorimotor peripheral neuropathy; Mildly abnormal EEG.
Diagnosis/Initial hereditary motor and sensory neuropathy
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 18y (18 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2026-03-06 17:24:40 +01:00 (CET)
Date last edited N/A

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