Phenotype #0000333169

Individual ID	00443905
Associated disease	?
Diagnosis/Initial	spastic cerebral palsy
Diagnosis/Definite	NEDSWMA
Phenotype details	microcephaly; predominantly lower limbs affected; upper limb ataxia; increased lower limb reflexes; plantar response upgoing; bilateral congenital dislocation hips; fixed flexion deformities both knees; never walked independently, 2y6m-mobility with frame; 4y-wheelchair bound after surgery congenital hip dislocation; convergent squint
Inheritance	Familial, autosomal recessive
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	1y
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