Global Variome shared LOVD

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Phenotype #0000300229 Individual ID 00408101 Associated disease - Phenotype details 2 years old girl was born with uncomplicated antenatal course. During the neonatal period she developed persistent jaundice that required phototherapy and hemolytic anemia that required blood transfusions. During infancy, she continued to have macrocytic hemolytic anemia and found to have esotropia, failure to thrive, short stature, regression, hypotonia, hypereflexia, and joint hyperlaxity. Parents were cousins. She had two healthy siblings. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Hemolytic anemia due to triosephosphate isomerase deficiency Age/Examination 2y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-13 19:19:00 +02:00 (CEST) Date last edited N/A

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