Phenotype #0000000656

Individual ID 00001390
Associated disease KNO2
Inheritance Isolated (sporadic)
Diagnosis/Initial -
Age/Examination 08y (8 years)
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details after birth occipital meningocoele noted, brain CT normal; normal cognitive/motor development; 18m-poor vision; ectopia lentis, cataract (left eye), retinal degeneration, serous retinal detachment
(left eye), high myopia; occipital encephalocele, developmental delay
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 2013-06-20 23:38:01 +02:00 (CEST)
Date last edited 2013-06-20 23:53:15 +02:00 (CEST)

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