Phenotype #0000187838

Individual ID 00248871
Associated disease BCDS
Phenotype details cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; 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-2
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 19:43:31 +02:00 (CEST)
Date last edited 2019-07-29 20:24:02 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.