Global Variome shared LOVD

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Phenotype #0000357119 Individual ID 00472316 Associated disease FTHS Phenotype details see paper; ..., 24y-deceased; no motor retardation; acne; coarse face, thick skin; gingival enlargement; prominent forehead; hypertelorism; full cheeks; anteverted nostrils; broad mouth; micrognathia; mitral valve anomaly; no double right outlet; no ventricular septal defect; vertebral anomalies; no prominent coccyx; no bowing long bones; short hands; flexion deformity; no club feet; cortical erosions; osteoporosis Diagnosis/Initial Borrone Dermato-Cardio-Skeletal syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite FTHS Age/Examination 23y (23 years) 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 2026-01-31 12:48:28 +01:00 (CET) Date last edited N/A

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