Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000058330 Individual ID 00078559 Associated disease AFD1 Phenotype details Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes (decreased); midface retrusion; micrognathia; abnormal soft palate; abnormal ears; hearing loss; radial ray abnormality; abnormal thumbs (proximally placed and stiff); radioulnar synostosis (right) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 2y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Gerard C.P. Schaafsma Date created 2012-06-06 09:16:40 +02:00 (CEST) Date last edited N/A

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