Phenotype #0000083721

Individual ID 00072245
Associated disease EIEE
Phenotype details regression (HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), later rigidity (HP:0002063), hypokinesia (HP:0002375), generalized tonicclonic
seizures (HP:0002069), spasticity (HP:0001257), impaired volitional movement (HP:?)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 01y06m
Phenotype/Onset -
Protein -
Intellectual_dis -
Owner name Jamie Zeegers
Database submission license No license selected
Created by Johan den Dunnen
Date created 2017-06-24 22:09:49 +02:00 (CEST)
Date last edited N/A

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