Phenotype #0000001414

Individual ID 00002442
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details termination of pregnancy at 29.5w; weight of -1SD; head circumference of -1.5SD; malar hypoplasia; mandibular hypoplasia; dysplastic external ears; oesophageal atresia type C; delayed gyration and retro thyoid thymic residues
Inheritance Familial, autosomal dominant
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details 29.5w
Height-Weight-OFC -
Protein -
Owner name Dennis E. Bulman
Database submission license No license selected
Created by Dennis E. Bulman
Date created 2013-09-05 21:03:01 +02:00 (CEST)
Date last edited 2025-03-08 16:45:03 +01:00 (CET)

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