Global Variome shared LOVD

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Phenotype #0000086096 Individual ID 00108623 Associated disease ANPH Phenotype details Ultrasound at 18 weeks gestation showed anencephaly. The fetus had holoanencephaly, spinal rachischisis extending from the cervical to the sacral spine, a ventriculoseptal defect, absent brachiocephalic artery, origination of the right subclavian artery from the descending aorta, rocker bottom feet, and indeterminate genitalia. Multiple vertebral segmentation anomalies were present in the cervical and thoracic spine. The ribs were thin, and numbered nine on the left side and eleven on the right Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Michael Friez Database submission license No license selected Created by Michael Friez Date created 2017-07-27 21:27:47 +02:00 (CEST) Date last edited 2017-07-28 09:43:03 +02:00 (CEST)

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