Phenotype #0000001411

Individual ID 00002436
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details polyhydramnios; birth height of 0SD; birth head circumference of -2SD; weight at 4y of +1SD; height at 4y of 0SD; head circumference at 4y of -4SD; facial asymmetry; mandibular hypoplasia; dysplastic external ears; bilateral auditory canal atresia/stenosis; sensorineural hearing loss; moderate delayed psycho/motor development; oesophageal atresia; lateral semicircular canal agenesis; no seizures
Inheritance Isolated (sporadic)
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details 35+4w; weight (-1)
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 19:40:18 +02:00 (CEST)
Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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