Phenotype #0000358704

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473909
Associated disease	motor neuron disease
Diagnosis/Initial	motor neuron disease
Diagnosis/Definite	-
Phenotype details	onset 6y, Motor developmental delay; Sway-back posture, lordosis; Pes valgus; High arched feet; Muscle weakness; Peroneal atrophy; Constipation; EMG-NCV: distal SMA.
Inheritance	Familial, autosomal recessive
Age/Examination	24y (24 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission 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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