Global Variome shared LOVD

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Phenotype #0000357115 Individual ID 00472312 Associated disease FTHS Phenotype details see paper; ..., 8y-deceased; no motor retardation; no acne; coarse face, thick skin; gingival enlargement; prominent forehead; brachycephaly; hypertelorism; no congenital glaucoma; no large cornea; prominent eyes; full cheeks; no anteverted nostrils; broad mouth; broad alveolar ridges; micrognathia; no protruding ears; mitral valve anomaly; no double right outlet; no ventricular septal defect; vertebral anomalies; no prominent coccyx; bowing long bones; short hands; flexion deformity; club feet; osteopenia; genu valgum; radial head dislocation; thoracic wall deformity; thickened interphalangeal joints Diagnosis/Initial Borrone Dermato-Cardio-Skeletal syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite FTHS Age/Examination 8y (8 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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