Phenotype #0000328880

Individual ID	00438982
Associated disease	?
Diagnosis/Initial	movement disorder
Diagnosis/Definite	-
Phenotype details	see paper; ..., abnormal gait, prone to falling; no axial hypotonia; normal head balance; head titubation; mild pyramidal signs (legs); extrapyramidal signs, (rubral) tremor (3/s), increasing with action, mild posturing; saccadic pursuit; 14m-walking without support, 12y-wheelchair dependent; swallowing problems; severe dysarthria; cognition normal; no epilepsy; molars first to erupt, 4y-incisors erupted; normal puberty; normal growth; OFC normal; mild myopia; no hearing loss
Inheritance	Familial, autosomal recessive
Age/Examination	29y (29 years)
Age/Diagnosis	-
Age/Onset	14m
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-26 21:30:32 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD