Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000166804 Individual ID 00218362 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y07m15d Diagnosis/Initial meningitis Age/Examination 23y (23 years) Diagnosis/Definite 21y07m Age/Diagnosis - Phenotype/Onset Meningitis followed by inability to move limbs Phenotype details Neonatal history: normal development for 07m15d; Present phenoytpe: Severely affected: retardation (HP:0001249), athetosis (HP:0002305), dystonia (HP:0001276), limb contractures (HP:0003121), incontinence, height & weight < 5th percentile, poor nutrition Protein - Biochem - Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-01-24 09:36:13 +01:00 (CET) Date last edited 2019-08-02 16:56:41 +02:00 (CEST)

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