Phenotype #0000188812

Individual ID 00250266
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details spontaneous atrial septal defect closing; diastasis recti (14m-6 cm); dilated and tortuous ureters bilaterally with left hydronephrosis; CNS, ventriculomegaly, Chiari malformation and syrinx, meningeal cysts at T2-T3, developmental delay, o/e hypertelorism and broad forehead similar to mother, low-set ears, cafe-au-lait patch R buttock and L lower scapula, healing capillary hemangioma L buttock
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2012-11-24 11:35:07 +01:00 (CET)
Date last edited N/A

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