Phenotype #0000357113

Individual ID 00472310
Associated disease FTHS
Phenotype details see paper; ..., prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; tetinal detachment, 7y-sudden vision loss; large cornea; prominent eyes; full cheeks; anteverted nostrils; broad mouth; broad alveolar ridges; micrognathia; kyphosis; prominent coccyx; severe genu valgum, dislocated left knee, bilateral hips, both elbows; short hands; no flexion deformity fingers; pes valgus.; cardiomegaly, severe mitral and aortic valve prolapsed; 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 InternationalCreative Commons License
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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