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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