Phenotype #0000341352

Individual ID 00452780
Associated disease CLIFAHDD
Phenotype details inability to walk on toes, on heels, or in tandem; moderate limb dysmetria; adiadochokinesia; mild upward ophthalmospasms; oculomotor apraxia; slurred speech; facial grimaces; inappropriate laughing; moderate cognitive difficulty in several domains. Brain magnetic resonance imaging showed cerebellar atrophy, particularly of vermis and inferior lobe, and asymmetry in the occipital bones.
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 26
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein sodium leak channel
Owner name Domenico Coviello
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Domenico Coviello
Date created 2024-07-23 14:23:45 +02:00 (CEST)
Date last edited 2024-07-24 10:17:55 +02:00 (CEST)

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