Phenotype #0000001566

Individual ID 00002603
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details polyhydramnios; weight at 8y7m 25kg/-2.4SD; height at 8y7m 128cm/-2.4SD; OFC at 8y7m 46cm/-5.9SD; severe ID; walking at 39m; microtia with squared earlobe; aplasia/hypoplasia of external ear canal; bilateral combined hearing loss; cleft palate; reduced mouth opening; micrognathia; tracheostomy; esophageal atresia; VSD; bilateral cleft of zygomatic bone; no seizures
Inheritance Familial, autosomal dominant
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details 34w; weight 2010 (-0.4)
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 10:13:12 +02:00 (CEST)
Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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