Phenotype #0000256878

Individual ID	00361474
Associated disease	?
Diagnosis/Initial	neuromuscular disease
Diagnosis/Definite	IDDSAPN
Phenotype details	see paper; ..., intellectual disability/global developmental delay; speech delay; neuropathy (axonal); ataxia; distal muscle atrophy; no hypotonia; no respiratory distress; no tremor; MRI brain abnormal; kyphosis/scoliosis
Inheritance	Familial, autosomal recessive
Age/Examination	22y (22 years)
Age/Diagnosis	-
Age/Onset	2y
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-07 10:15:22 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD