Phenotype #0000157560

Individual ID 00208953
Associated disease EAOH
Phenotype details Severe gait limb ataxia, dysarthria, defects of saccadic initiation and distal weakness lower limbs. Moderate muscular wasting. Mildchoreoathetosis, Mild distal weakness upper limbs, cognitive impairment and decreased vibration sense lower limbs. Nystagmus, 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