Phenotype #0000328876

Individual ID	00438978
Associated disease	?
Diagnosis/Initial	movement disorder
Diagnosis/Definite	-
Phenotype details	see paper; ..., mild motor delay; no axial hypotonia; normal head balance; mild gait ataxia; no pyramidal signs; no extrapyramidal signs; normal eye movements; walking without support; no swallowing problems; 4y-mild delay in language development, stutter; mild learning difficulties; no epilepsy; normal dentition; normal growth; OFC normal; mild myopia; no hearing loss
Inheritance	Familial, autosomal recessive
Age/Examination	7y (7 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	2023-10-26 21:30:32 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD