Global Variome shared LOVD

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Phenotype #0000357108 Individual ID 00472305 Associated disease FTHS Phenotype details see paper; ..., no motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; no congenital glaucoma; large cornea; prominent eyes; full cheeks; no anteverted nostrils; broad mouth; no broad alveolar ridges; micrognathia; kyphosis; no prominent coccyx; no bowing long bones; short hands; no flexion deformity fingers; no mitral valve anomaly; no ventricular septal defect Diagnosis/Initial Frank-Ter Haar syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite FTHS Age/Examination - 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 12:03:29 +01:00 (CET) Date last edited N/A

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