Global Variome shared LOVD

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Phenotype #0000128118 Individual ID 00155736 Associated disease ? Diagnosis/Initial congenital heart disease Diagnosis/Definite - Phenotype details 1d-ventricular septal defect; 9y-spontaneous closure ventricular septal defect; "ambiguous" Prader IV, pigmented scrotum, phallus-like clitoris, R palpable gonad in the inguinal canal; R ductus-like Wolffian structures, L uterus, ovary, and Fallopian tube, vagina and short urogenital sinus; pelvic ultrasound: R testis, L ovary, histology: R gonad, testis tubules, and ovarian tissue with oocytes; mild learning disabilities, minor limb anomalies, hypertelorism, blepharophimosis ptosis epicanthus inversus syndrome Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-03-24 21:40:11 +01:00 (CET) Date last edited N/A

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