Phenotype #0000359450

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00474658
Associated disease	NDD
Diagnosis/Initial	peripheral neuropathy
Diagnosis/Definite	NMAN
Phenotype details	see paper; ..., abnormal without aids; pes planus; scoliosis; no deep tendon reflexes; Abnormal; myotonia; muscle retractions; axonal motor neuropathy; no neuromyotonia; dyslexia; no psychiatric disorder; MRI brain normal
Inheritance	Familial, autosomal recessive
Age/Examination	26y (26 years)
Age/Diagnosis	-
Age/Onset	4y
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission 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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