Global Variome shared LOVD

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Phenotype #0000302060 Individual ID 00397592 Associated disease NFTC Phenotype details Retinopathy of prematurity (HP:0500049), Subcutaneous calcification (HP:0007618), Edema (HP:0000969), Erythema (HP:0010783), Abnormal pigmentation of the oral mucosa (HP:0100669), Gingivitis (HP:0000230) Diagnosis/Initial Normophosphatemic Familial Tumoral Calcinosis Inheritance Familial, autosomal recessive Diagnosis/Definite Normophosphatemic Familial Tumoral Calcinosis Age/Examination 06y (6 years) Age/Diagnosis 06y Age/Onset 06y Phenotype/Onset 06 Protein - Owner name Litika Vermani Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Litika Vermani Date created 2022-05-14 18:54:33 +02:00 (CEST) Date last edited 2022-05-16 09:30:23 +02:00 (CEST)

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