Phenotype #0000333174

Individual ID	00443910
Associated disease	?
Diagnosis/Initial	spastic cerebral palsy
Diagnosis/Definite	NEDSWMA
Phenotype details	see paper; ...,p renatal growth retardation, LSCS for fetal distress; birth weight 5.5 lb; mild learning disability; mid-childhood increased falls; no epilepsy; predominantly lower limbs affected; upper limb ataxia; ataxic gait; increased lower limb reflexes/tone; plantar response upgoing; pes planus; poor muscle bulk; hypotonia changing to hypertonia later; weight gain; 1y6m-walk; facial hypotonia; 11y6m-frequent falling; no eye anomalies; normal nerve conduction studies, EMG normal, creatinine kinase normal
Inheritance	Familial, autosomal recessive
Age/Examination	18y (18 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