Global Variome shared LOVD

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Phenotype #0000299386 Individual ID 00406885 Associated disease cancer, skin Phenotype details Skin plaque (HP:0200035), no Confetti-like hypopigmented macules (-HP:0007449), no Abnormality of the kidney (-HP:0000077), no Seizure (-HP:0001250). Brain MRI and CT show “soft tissue mass” and “lesions with ground-glass appearance in right frontoparietal occipital bones”. Diagnosis/Initial hyperplastic scar Inheritance Isolated (sporadic) Diagnosis/Definite FCCH Age/Examination 29y (29 years) Age/Diagnosis 29y Age/Onset 01y Phenotype/Onset Skin plaque(HP:0200035) Protein - Diagnosis/Criteria - Owner name Fang Qiu Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Fang Qiu Date created 2022-04-05 16:13:02 +02:00 (CEST) Date last edited 2022-04-07 22:38:46 +02:00 (CEST)

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