Phenotype #0000157529

Individual ID 00208922
Associated disease EAOH
Phenotype details gait ataxia, mild axial and limb ataxia, dysarthria, areflexia, loss of pallesthesia, cerebellar atrophy, decreased motor conduction in lower limbs, right extensor plantar response, mild upper limb dystonia, moderate ptosis of the left lid, pes cavus,
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 PiƱeiro