Global Variome shared LOVD

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

Phenotype #0000001396 Individual ID 00002418 Associated disease MFDGA;MFDM Diagnosis/Initial - Diagnosis/Definite MFDGA Phenotype details Paternal age of 31y;Birth OFC of 32.5cm/-2SD; Malar hypoplasia; Micrognathia; downslanting obliquity of palpebrae; Microtia; Auditory canal atresia or stenosis; conductive hearing loss; bilateral choanal atresia; moderate global developmental delay; walking at 24m; 46,XX; normal microarray finding; no seizures Inheritance Isolated (sporadic) Age/Examination - Age/Onset - Phenotype/Onset - Age/Diagnosis - Birth_Details 41+3w; weight 3870 (+0.5) Height-Weight-OFC 84cm (-0.25); 10.3kg (-2); 42cm (-5) Protein - Owner name Dennis E. Bulman Database submission license No license selected Created by Dennis E. Bulman Date created 2013-09-01 17:28:12 +02:00 (CEST) Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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