Global Variome shared LOVD

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

Phenotype #0000000803 Individual ID 00001636 Associated disease MFDGA;MFDM Diagnosis/Initial - Diagnosis/Definite MFDGA Phenotype details IUGR; Malar hypoplasia; Micrognathia; Upslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Unilateral auditory canal atresia/stenosis; Conductive hearing loss; Midline cleft palate; Moderate to severe global developmental delay; Walking at 24-36m; Congenital heart defect(VSD; 46,XX; no seizures Inheritance Isolated (sporadic) Age/Examination - Age/Onset - Phenotype/Onset - Age/Diagnosis - Birth_Details 40w; weight 2610 (-2) Height-Weight-OFC 87cm (-1.75); 13.4Kg (+0); 43.5cm (-4) Protein - Owner name Dennis E. Bulman Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Dennis E. Bulman Date created 2013-07-29 01:11:40 +02:00 (CEST) Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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