Global Variome shared LOVD

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

Phenotype #0000166813 Individual ID 00218370 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y07m Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y07m Phenotype/Onset Fever (HP:0001945) and cold folllowed by ophisthotonus (HP:0002179), irritability (HP:0000737), macrocephaly (HP:0000256), retardation (HP:0001249) Phenotype details eonatal history: unknown ohter than weekly "fevers"; Phenoytpe before death: retardation; Prior to death development of seizures, decreased truncal muscle tone (HP:0008936), increased limb tone and involuntary movements (HP:0004305) Protein - Biochem - Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-01-24 11:50:27 +01:00 (CET) Date last edited N/A

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