Phenotype #0000359454

Individual ID 00474662
Associated disease NDD
Diagnosis/Initial peripheral neuropathy
Diagnosis/Definite NMAN
Phenotype details see paper; ..., abnormal without aids; short Achille's tendons; no scoliosis; no deep tendon reflexes; Abnormal; myotonia; axonal motor neuropathy; neuromyotonia; neurodevelopmental disorder, intellectual disability; generalized anxiety disorder, obsessive-compulsive disorder
Inheritance Familial, autosomal recessive
Age/Examination 14y (14 years)
Age/Diagnosis -
Age/Onset 8y
Phenotype/Onset -
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 2026-03-19 16:27:05 +01:00 (CET)
Date last edited N/A

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