Global Variome shared LOVD

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

Phenotype #0000166807 Individual ID 00218365 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y00m00d Diagnosis/Initial - Age/Examination 09y (9 years) Diagnosis/Definite - Age/Diagnosis 00y00m07d Phenotype/Onset Delayed gross motor skills (HP:0002194) Phenotype details Neonatal history: hypoglycemia (HP:0001943), lethargy (HP:0001254), slow development, macrocephaly (HP:0004488); Present phenoytpe: low normal development, hypotonia (HP:0008947), incoordination (HP:0002311) Protein - Biochem - Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-01-24 10:32:15 +01:00 (CET) Date last edited N/A

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