Phenotype #0000357833

Individual ID	00473038
Associated disease	neuropathy
Diagnosis/Initial	hereditary neuropathy
Diagnosis/Definite	-
Phenotype details	onset at birth; Severe hypotonia; Psychomotor delay; Inability to walk; Long face; Small nose; Proximal & distal muscle weakness; Severe laxity in fingers & wrists; Mild PS; Internal rotation of shoulder; Small hands; Mild small feet; EMG-NCV: suggestive of chronic myopathic process or presence of concomitant myopathy and ant horn cell disorder; Increased LDH & Aldolase.
Inheritance	Familial, autosomal recessive
Age/Examination	8y (8 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
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

Global Variome shared LOVD