Global Variome shared LOVD

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Phenotype #0000353638 Individual ID 00468486 Associated disease CTRCT Phenotype details nuclear cataract; symmetrical opacities; congenital alopecia，sparse and brittle eyebrows, sparse and thinned eyelashes, sparse hair on the extremities, and an absence of axillary and pubic hair Diagnosis/Initial bilateral cataract Inheritance Familial, autosomal recessive Diagnosis/Definite APMR4 Age/Examination - Age/Diagnosis - Age/Onset 1y 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 2025-11-09 20:53:28 +01:00 (CET) Date last edited N/A

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