Phenotype #0000001569

Individual ID 00002606
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details polyhydramnios;birth height 48cm/-1.7SD; birth OFC 32cm/-2.2SD; Height at 8y 114.5cm/-2.6SD; weight at 8y21kg/-1.6SD; OFC at 8y 46cm/-5.5SD; mild ID; walking at 30m; first words at 36m; hyperplastic supraorbital ridges; frontal bossing upslanting palpebral fissures; microtia with squared earlobe; hypoplasia of external ear canal; bilateral conductive hearing loss; esophageal atresia; small middle ear cavity; abnormal malleolus; no seizures
Inheritance Unknown
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details 40w; weight 2500 (-2.3)
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 13:58:02 +02:00 (CEST)
Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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