Phenotype #0000337262

Individual ID 00448073
Associated disease BCS
Diagnosis/Initial brittle cornea syndrome
Diagnosis/Definite BCS2
Phenotype details see paper; ..., no corneal rupture; myopia; blue sclera; no keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; fractures; no myalgia; abnormal gait; deafness; hypercompliant tympanic membranes; learning disability
Inheritance Familial, autosomal recessive
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 2024-02-14 13:52:54 +01:00 (CET)
Date last edited N/A

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