Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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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