Phenotype #0000166805

Individual ID 00218363
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 00y07m
Diagnosis/Initial Western equine encephalitis
Age/Examination 17y (17 years)
Diagnosis/Definite -
Age/Diagnosis 12y08m
Phenotype/Onset Western equine encephalitis followed by spasticity (HP:0001257) and seizures (HP:0001250)
Phenotype details Neonatal history: probable slow early development, macrocephaly (HP:0004488); Present phenoytpe: Similar to patient 3 (severely affected: retardation (HP:0001249), athetosis (HP:0002305), dystonia (HP:0001276), limb contractures (HP:0003121), incontinence, height & weight < 5th percentile, poor nutrition) but less movement disorder
Protein -
Biochem -
Enzyme/Activity -
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2019-01-24 09:54:23 +01:00 (CET)
Date last edited 2019-08-02 16:54:28 +02:00 (CEST)

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