Phenotype #0000328872

Individual ID	00438974
Associated disease	?
Diagnosis/Initial	movement disorder
Diagnosis/Definite	-
Phenotype details	see paper; ..., no smiling, failure to thrive; axial hypotonia; suboptimal head balance; no intentional movements; no pyramidal signs; extrapyramidal signs, choreic movements and opisthotonus; saccadic pursuit; some head balance; mild swallowing problems; no speech; severe global delay; epilepsy, 15m-myoclonic jerks; lack of maxillary incisors; failure to thrive; OFC normal
Inheritance	Familial, autosomal recessive
Age/Examination	2y (2 years)
Age/Diagnosis	-
Age/Onset	2m
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