Global Variome shared LOVD

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Phenotype #0000050409 Individual ID 00063826 Associated disease FANC Diagnosis/Initial - Diagnosis/Definite - Phenotype details 0d-left facial nerve palsy, microcephaly, bilaterally absent thumbs, ectopic left kidney, haemodynamically stable patent ductus arteriosus, normal blood indices/karyotype, complete absence first metacarpal and scaphoid bones bilaterally, absent left radius, hypoplastic right radius; followup severe growth deficiency, microcephaly, marked increase dsDNA breaks diepoxybutane test Inheritance Familial, autosomal recessive Age/Examination 2y6m (2 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2013-03-01 19:11:42 +01:00 (CET) Date last edited N/A

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