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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-11-23 18:48:51 +01:00 (CET)
Date last edited N/A

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