Phenotype #0000187844

Individual ID 00248878
Associated disease BCDS
Phenotype details cleft lip/palate (2/2); eyelid anomalies ectropion (2/2), euryblepharon (2/2), lagophthalmy (2/2), distichiasis (2/2); hair anomalies (2/2); no conical teeth; tooth agenesis (2/2); nail dysplasia (1/2); vertex aplasia (2/2); no choanal atresia; syndactyly (1/2); anal atresia (1/2); no neural tube defect; no hypothyroidism
Diagnosis/Initial blepharocheilodontic syndrome
Inheritance Familial, autosomal dominant
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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-07-29 21:42:55 +02:00 (CEST)
Date last edited N/A

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