Phenotype #0000333175

Individual ID	00443911
Associated disease	?
Diagnosis/Initial	spastic cerebral palsy
Diagnosis/Definite	NEDSWMA
Phenotype details	see paper; ..., normal delivery, birth weight 6.5 lb; mild/moderate learning disability; delayed walking; no epilepsy; 19y-OFC 53.4 cm; predominantly lower limbs affected; mild upper limb ataxia; ataxic gait; plantar response downgoing; short 4th/5th metacarpals (unilateral); mild hyper-telorism, relative small stature; flexed hips; late sitting; 2y6m-first steps, 10y-max mobility, 13y-detoriation; facial hypotonia; esotropia, nystagmus, jerk in horizontal plane and gaze-evoked upbeat in vertical plane, dysarthria, normal jaw jerk and upper limb co-ordination, normal optic discs;
Inheritance	Familial, autosomal recessive
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-12-06 12:32:04 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD