Phenotype #0000345775

Individual ID 00457301
Associated disease BCS1
Phenotype details Myopia (HP:0000545); decreased corneal thickness (HP:0100689); corneal stromal edema (HP:0012040); blue sclerae (HP:0000592); abnormal scleral thickness (HP:6000841
); reduced visual acuity (HP:0007663); corneal rupture (HP:0100583); ectopia lentis (HP:0001083); ectopia lentis (HP:0001083
); retinal detachment (HP:0000541); childhood onset sensorineural hearing impairment (HP:0011474); mitral regurgitation (HP:0001653); tricuspid regurgitation (HP:0005180); incomplete right bundle branch block (HP:6000313); kyphoscoliosis (HP:0002751); clinodactyly (HP:0030084); hallux valgus (HP:0001822); inguinal hernia (HP:0000023); carious teeth (HP:0000670).
Diagnosis/Initial Stickler syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite BCS1
Age/Examination 26y (26 years)
Age/Diagnosis 40y
Age/Onset 03y
Phenotype/Onset Myopia (HP:0000545)
Protein -
Owner name Deepak Subramanian
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Deepak Subramanian
Date created 2024-11-06 09:58:36 +01:00 (CET)
Date last edited 2024-11-08 11:25:30 +01:00 (CET)

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