Global Variome shared LOVD

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Phenotype #0000036992 Individual ID 00050380 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details global developmental delay, defect in the atrial septum, inguinal hernia, postnatal microcephaly, progressive microcephaly, slender tapering fingers, hypoplastic male genitalia, hypertelorism, shallow orbits, thin upper lip vermilion, long palpebral fissure, downslanted palpebral fissures, slender long bone, flared iliac wings 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 2015-09-27 16:16:40 +02:00 (CEST) Date last edited N/A

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