Phenotype #0000357099

Individual ID 00472296
Associated disease FTHS
Phenotype details see paper; ..., motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; congenital glaucoma; large cornea; prominent eyes; full cheeks; broad mouth; micrognathia; protruding ears; kyphosis; prominent coccyx; bowing long bones; short hands; no flexion deformity fingers; club feet; mitral valve anomaly
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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