Phenotype #0000337264

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00038385
Associated disease	BCS2
Phenotype details	see paper; ..., marked corneal thinning, irregular astigmatism, characteristic sclerae, arachnodactyly, joint laxity, particularly large joints upper extremities, pes planus
Diagnosis/Initial	brittle cornea syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	BCS2
Age/Examination	09y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2024-02-14 14:15:22 +01:00 (CET)
Date last edited	2024-02-14 14:19:05 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.