Global Variome shared LOVD

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Phenotype #0000187842 Individual ID 00248875 Associated disease BCDS Phenotype details cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; no hair anomalies; conical teeth; tooth agenesis; no nail dysplasia; no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; no neural tube defect; hypothyroidism Diagnosis/Initial blepharocheilodontic syndrome Inheritance Isolated (sporadic) Diagnosis/Definite BCDS-1 Age/Examination - 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 2019-07-29 20:57:56 +02:00 (CEST) Date last edited N/A

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