Phenotype #0000187841

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00248874
Associated disease	BCDS
Phenotype details	no cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; hair anomalies; conical teeth; tooth agenesis; nail dysplasia; no vertex aplasia; choanal atresia; no syndactyly; anal atresia; no neural tube defect; hypothyroidism
Diagnosis/Initial	blepharocheilodontic syndrome
Inheritance	Unknown
Diagnosis/Definite	BCDS-1
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-07-29 20:56:19 +02:00 (CEST)
Date last edited	N/A

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