Phenotype #0000157558

Individual ID 00208951
Associated disease EAOH
Phenotype details Severe gait limb ataxia. Moderate dysarthria, defects of saccadic initiation and choreoathetosis. Mild distal weakness lower and upper limbs, muscular wasting, cognitive impairment and decreased vibration sense lower limbs. Nystagmus, Babinksi sign and deep tendon reflexes lower limbs absent.
Diagnosis/Initial Ataxia-ocular apraxia type 1
Inheritance Familial, autosomal recessive
Diagnosis/Definite EAOH
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Sergio Piñeiro