Global Variome shared LOVD

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Phenotype #0000334354 Individual ID 00445101 Associated disease CTRCT Phenotype details total cataract; microcornea; microphthalmos; broad forehead, sparse eyebrows, short and flat nose bridge, broad tip of the nose, anteverted nares, broad philtrum, thin upper lip, diastema, deeply rooted and slightly protruding ears, rather small fingers, deep palmar creases, hockey stick on both sides; aphakic glaucoma Diagnosis/Initial cataract Inheritance Familial, X-linked recessive Diagnosis/Definite CTRCT40 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-01-02 18:58:09 +01:00 (CET) Date last edited N/A

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