Phenotype #0000105569

Individual ID 00132806
Associated disease NPC-1
Phenotype details see paper; ..., progressive impairment of fine movements, dysarthria; 28y-vertical gaze paralysis, severe dysarthria, dysphagia, ataxia, tremor, intellectual impairment; sister 25y-gait ataxia, 20y-dysarthria, 24y-vertical gaze paralysis
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 33y (33 years)
Age/Diagnosis -
Age/Onset 10y
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen