Phenotype #0000060709

Individual ID 00081213
Associated disease SPG54
Phenotype details Strabismus (HP:0000486)
Spasticity (HP:0001257)
Dysarthria (HP:0001260)
Abnormality of the cerebellum (HP:0001317)
Astigmatism (HP:0000483)
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 11y (11 years)
Age/Diagnosis -
Age/Onset 00y06m
Phenotype/Onset -
Protein -
Owner name Karo Smeele
Database submission license No license selected
Created by Karo Smeele
Date created 2016-09-22 12:51:45 +02:00 (CEST)
Date last edited 2016-09-28 15:47:18 +02:00 (CEST)

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