Phenotype #0000245781

Individual ID 00327462
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details see paper; ..., 8m-leg bowing; 2y-hyperopic astigmatism; retinal dystrophy (HP:0000556); 3y-shortened and thickened ribs; narrow chest (HP:0000774), scoliosis (HP:0002650), short stature (HP:0004322)
Inheritance Familial, autosomal recessive
Age/Examination 30y (30 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset hyperopic astigmatism
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Mariah De Bruin
Database submission license No license selected
Created by Johan den Dunnen
Date created 2021-01-22 11:42:37 +01:00 (CET)
Date last edited N/A

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