Phenotype #0000038126

Individual ID	00051528
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	Brittle cornea syndrome; diagnosed with congenital hip dislocation requiring surgery; 5y-bilateral ocular trauma, sustained bilateral corneal perforations and retinal detachments in both eyes, high myopia; macrocephaly, enlarged arm span, pectus carinatum, arachnodactyly, pes plani, scoliosis, hearing loss.; ECG unremarkable with normal aortic root measurements
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Shazia Micheal
Database submission license	No license selected
Created by	Shazia Micheal
Date created	2015-10-01 14:08:14 +02:00 (CEST)
Date last edited	2017-11-29 08:25:48 +01:00 (CET)

Global Variome shared LOVD