Global Variome shared LOVD

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Phenotype #0000288769 Individual ID 00395571 Associated disease ? Diagnosis/Initial - Diagnosis/Definite Mixed Phenotype details rod-cone dystrophy, obesity, galactosuria, iga and igm deficiency, impairment of galactose metabolism, splenomegaly, fatigue, global developmental delay, hyperactivity, hyperkinesis, intellectual disability, mild, specific learning disability, leukopenia, megaloblastic anemia, thrombocytopenia, pancytopenia, atopic dermatitis, bruising susceptibility; affected sibling with similar clinical presentation, additional hepatomegaly Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-12-08 14:12:08 +01:00 (CET) Date last edited N/A

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