Global Variome shared LOVD

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Phenotype #0000308362 Individual ID 00416852 Associated disease FANCD1 Phenotype details brain magnetic resonance imaging: focal temporal cortical dysplasia; additional clinical featurespostnatal growth retardation, obesity, seizures, primary amenorrhea, hepatocellular carcinoma, mild-moderate intellectual disability with regression Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Fanconi anemia, complementation group D1 [MIM 605724] Age/Examination 19y (19 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 2022-09-08 10:25:47 +02:00 (CEST) Date last edited N/A

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