Phenotype #0000039764

Individual ID 00053039
Associated disease SGS
Phenotype details craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; no scoliosis; pectus deformity; joint hypermobility; joint contracture; C1/2 spine malformation; hypotonia; developmental delay; mitral valve prolapse; no aortic root dilatation; no ectopia lentis; no cleft palate; no broad/bifid uvula; no club foot deformity
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 5y (5 years)
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 2015-10-29 22:56:24 +01:00 (CET)
Date last edited N/A

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