Phenotype #0000166549

Individual ID 00218103
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 00y04m21d
Diagnosis/Initial -
Age/Examination 02y07m (2 years, 7 months)
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details Starting at age 04m21d: dystonia (HP:0001276), hypertonia (HP:0001276), clonus (HP:0002169); several emergency visits and hospitalizations because of infectious diseases, dystonia and seizures (HP:0001250), head circumference >95th percentile; Present neurological status (age 02y07m): severe dystonia; MRI(age 01y03m): frontotemporal atrophy, widened Sylvian fissures, decreased white matter attenuation, dilation of lateral ventricles (for more information see full text)
Protein -
Biochem GA(urine): 218µmol/mmol creatinine
Enzyme/Activity -
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2019-01-22 17:47:53 +01:00 (CET)
Date last edited 2019-07-12 10:59:01 +02:00 (CEST)

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