Global Variome shared LOVD

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

Phenotype #0000001402 Individual ID 00002424 Associated disease MFDGA;MFDM Diagnosis/Initial - Diagnosis/Definite MFDGA Phenotype details paternal age of 28y; full term gestation; malar hypoplasia; micrognathia; one downslanting obliquity of palpebrae; microtia; preauricular tags; midline cleft palate including submucous; moderate to severe global developmental delay; walking at 17m; first words at 24m; mitopic ridge; 46,XY; seizures Inheritance Isolated (sporadic) Age/Examination - Age/Onset - Phenotype/Onset - Age/Diagnosis - Birth_Details weight 3100 Height-Weight-OFC 131cm (-1); 24kg (-2); 48cm (-3.5) Protein - Owner name Dennis E. Bulman Database submission license No license selected Created by Dennis E. Bulman Date created 2013-09-01 23:09:36 +02:00 (CEST) Date last edited 2025-03-08 16:47:04 +01:00 (CET)

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