Global Variome shared LOVD

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Phenotype #0000058335 Individual ID 00078564 Associated disease AFD1 Phenotype details Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes; midface retrusion; micrognathia; tracheotomy; abnormal ears; hearing loss; small right thumb and slender left thumb; radioulnar synostosis (unilateral); abnormal teeth, partial absence of left fingers 3-5, slencer haluces, and hallux valgus Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 24y (24 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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