Global Variome shared LOVD

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Phenotype #0000058342 Individual ID 00078571 Associated disease AFD1 Phenotype details Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes (sparse); midface retrusion; micrognathia; tracheotomy; abnormal ears (cupped, narrow canals); hearing loss; absent right thumb and small left thumb; radioulnar synostosis (right > left); delayed speech and fine motor; short stature (3-5%), dacryostenosis, and small first toes and first metatarsals Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 20y (20 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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