Phenotype #0000332044

Individual ID	00442697
Associated disease	NMD
Diagnosis/Initial	Psychomotor retardation, deafness, hypotonia, polyneuropathy, scoliosis, respiratory symptoms
Diagnosis/Definite	-
Phenotype details	Neonatal hypotonia with apnoeas and need of tracheostomy, atrophy of shoulder, upper arm and lower leg muscles, facies myopathica with dysphonia, ptosis and kyphoscoliosis, sensory polyneuropathy; muscle biopsy: type 1 fiber size predominance with presence of internal nuclei and some core-like structures, COX/SDH negative fibers
Inheritance	Familial, autosomal recessive
Age/Examination	31y (31 years)
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-23 18:48:51 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD