Global Variome shared LOVD

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Phenotype #0000187839 Individual ID 00248872 Associated disease BCDS Phenotype details cleft lip/palate (1/2); eyelid anomalies ectropion (2/2), euryblepharon (1/2), lagophthalmy (1/2), distichiasis (1/2); hair anomalies (1/2); conical teeth (2/2); tooth agenesis (2/2); no nail dysplasia; no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; no neural tube defect; no hypothyroidism Diagnosis/Initial blepharocheilodontic syndrome Inheritance Familial, autosomal dominant Diagnosis/Definite BCDS-2 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 19:43:31 +02:00 (CEST) Date last edited 2019-07-29 20:23:45 +02:00 (CEST)

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