Global Variome shared LOVD

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Phenotype #0000000616 Individual ID 00001184 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y05m Diagnosis/Initial acute encephalitis Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y06m Phenotype/Onset Normal development until age 05m: upper respiratory tract infection with fever and following development of tonic seizures (HP:0001250), opisthonic posturing (HP:0002179) and drowsiness Phenotype details Outcome thereafter: spasticity (HP:0001257), involuntary, grimacing, dystonic and choreoathetotic movements (HP:0004305, HP:0000273, HP:0001266); Disease course: At age 14y06m: severely affected (bedridden, tube feeding required), seizures, dystonia (HP:0001276); CT: marked atrophy of the frontal and temporal lobes and ventriculomegaly Protein - Biochem GA(urine): high Enzyme/Activity - Owner name Katrin Hinderhofer Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2013-04-17 17:21:21 +02:00 (CEST) Date last edited 2019-02-14 12:42:04 +01:00 (CET)

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