Phenotype #0000001405

Individual ID 00002428
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details pre-eclampsia; polyhydramnios; birth head circumference of -1SD; weight at 5m of -3SD; head circumference at 5m of -3SD; facial asymmetry; malar hypoplasia; mandibular hypoplasia; dysplastic cup-shaped external ears; unilateral preauricular tags; conductive hearing loss; moderate delayed psycho/motor development; patent ductus arteriosus; oesophageal atresia; unilateral pelvic kidney; 46,XY; no seizures
Inheritance Isolated (sporadic)
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details 34w; weight (-1.5)
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 02:31:31 +02:00 (CEST)
Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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