Phenotype #0000053525

Individual ID 00017613
Associated disease NBIA1
Phenotype details birth weight: 3,850 g; No history of perinatal complications;Normal early
developmental milestones; 24 months: parents reported gait difficulties and persistent toe walking; 6y: poor academic ability;15y: Normal general physical examination; Mild oro-mandibular dystonia with dysarthria; spastic dystonic paraparesis; still able to walk unaided; IQ ΒΌ 49; 20y:unable to ambulate independently; 25y: severe spastic bradykinetic-rigid syndrome associated with mild dystonia with distal areflexia in the lower limbs
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 25y (25 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Johan den Dunnen
Date created 2016-06-19 16:48:23 +02:00 (CEST)
Date last edited N/A

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