Global Variome shared LOVD

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

Phenotype #0000001582 Individual ID 00002621 Associated disease MFDGA;MFDM Diagnosis/Initial - Diagnosis/Definite MFDGA Phenotype details polyhydramnios; birth height 52cm/-0.2SD; birth OFC 34cm/-1.2SD; height at 7y4m 126cm/0.1SD; weight at 7y4m 22.5kg/-0.6SD; OFC at 7y4m 47.5cm/-3.9SD; moderate ID; walking at 21m; words at 30m; upslanting palpebral ridges; microtia with squared earlobe; narrow external ear canal; cleft palate; micrognathia; esophageal atresia; VSD; bilateral cleft of zygomatic bone;; no seizures Inheritance Isolated (sporadic) Age/Examination - Age/Onset - Phenotype/Onset - Age/Diagnosis - Birth_Details 40w; weight 3180 (-1.0) Height-Weight-OFC - Protein - Owner name Dennis E. Bulman Database submission license No license selected Created by Dennis E. Bulman Date created 2013-09-10 16:21:48 +02:00 (CEST) Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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