Phenotype #0000073514

Individual ID 00095119
Associated disease SPG54
Phenotype details Spasticity (HP:0001257), Dysarthria (HP:0001260), Gait disturbance (HP:0001288), Abnormality of the cerebellum (HP:0001317), Strabismus (HP:0000486), Babinski sign (-HP:0003487), Impaired vibration sensation at ankles (HP:0006938), Urinary bladder sphincter dysfunction (HP:0002839), Periventricular leukomalacia (HP:0006970), Intellectual disability, moderate (HP:0002342)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 00y03m
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-09-28 15:46:27 +02:00 (CEST)
Date last edited N/A

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