Global Variome shared LOVD

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Phenotype #0000357104 Individual ID 00472301 Associated disease FTHS Phenotype details see paper; ..., motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; no congenital glaucoma; large cornea; prominent eyes; full cheeks; no anteverted nostrils; broad mouth; broad alveolar ridges; no micrognathia; protruding ears; no kyphosis; prominent coccyx; no bowing long bones; short hands; flexion deformity fingers; pes adductus; mitral valve anomaly; no double right outlet; ventricular septal defect; gall stones 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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