Phenotype #0000295571

Individual ID 00402809
Associated disease MALNS;SOTOS2
Inheritance Familial, autosomal dominant
Diagnosis/Initial collagenopathy
Age/Examination 13y (13 years)
Diagnosis/Definite SOTOS2
Age/Diagnosis -
Age/Onset -
Phenotype/Onset Exotropia (HP:0000577)
Phenotype details Exotropia, severe intellectual disability, tall stature, pectus excavatum, arachnodactyly, dolichostenomelia, dolichocephaly, deeply set eye, tooth malposition.
Protein -
Owner name Miriam Erandi Reyna-Fabián
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Miriam Erandi Reyna-Fabián
Date created 2022-02-10 20:15:13 +01:00 (CET)
Date last edited 2022-02-16 11:07:05 +01:00 (CET)

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